The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)
Male parents, human or animal.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none.
The possession of a third chromosome of any one type in an otherwise diploid cell.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Mapping of the KARYOTYPE of a cell.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A method for diagnosis of fetal diseases by sampling the cells of the placental chorionic villi for DNA analysis, presence of bacteria, concentration of metabolites, etc. The advantage over amniocentesis is that the procedure can be carried out in the first trimester.
The protein components that constitute the common core of small nuclear ribonucleoprotein particles. These proteins are commonly referred as Sm nuclear antigens due to their antigenic nature.
Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion.
Actual loss of portion of a chromosome.
Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.
A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE DISORDERS.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A HERNIA due to an imperfect closure or weakness of the umbilical ring. It appears as a skin-covered protrusion at the UMBILICUS during crying, coughing, or straining. The hernia generally consists of OMENTUM or SMALL INTESTINE. The vast majority of umbilical hernias are congenital but can be acquired due to severe abdominal distention.
Female parents, human or animal.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A characteristic symptom complex.
A class of untranslated RNA molecules that are typically greater than 200 nucleotides in length and do not code for proteins. Members of this class have been found to play roles in transcriptional regulation, post-transcriptional processing, CHROMATIN REMODELING, and in the epigenetic control of chromatin.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
An individual in which both alleles at a given locus are identical.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Any method used for determining the location of and relative distances between genes on a chromosome.
A class in the phylum MOLLUSCA comprised of mussels; clams; OYSTERS; COCKLES; and SCALLOPS. They are characterized by a bilaterally symmetrical hinged shell and a muscular foot used for burrowing and anchoring.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE.
An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
Proto-oncogene proteins that negatively regulate RECEPTOR PROTEIN-TYROSINE KINASE signaling. It is a UBIQUITIN-PROTEIN LIGASE and the cellular homologue of ONCOGENE PROTEIN V-CBL.
Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
Highly conserved nuclear RNA-protein complexes that function in RNA processing in the nucleus, including pre-mRNA splicing and pre-mRNA 3'-end processing in the nucleoplasm, and pre-rRNA processing in the nucleolus (see RIBONUCLEOPROTEINS, SMALL NUCLEOLAR).
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Biochemical identification of mutational changes in a nucleotide sequence.
A family of marine MUSSELS in the class BIVALVIA.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
An infant during the first month after birth.

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. (1/158)

OBJECTIVE: To review all cases with segmental and/or complex uniparental disomy (UPD), to study aetiology and mechanisms of formation, and to draw conclusions. DESIGN: Searching published reports in Medline. RESULTS: The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a non-homologous Robertsonian translocation, eight cases with UPD and two isochromosomes, one of the short arm and one of the long arm of a non-acrocentric chromosome, 39 cases with UPD and an isochromosome of the long arm of two homologous acrocentric chromosomes, one case of UPD and an isochromosome 8 associated with a homozygous del(8)(p23.3pter), and 21 cases with UPD of a whole or parts of a chromosome associated with a complex karyotype. Segmental UPD is formed by somatic recombination (isodisomy) or by trisomy rescue. In the latter mechanism, a meiosis I error is associated with meiotic recombination and an additional somatic exchange between two non-uniparental chromatids. Subsequently, the chromatid that originated from the disomic gamete is lost (iso- and heterodisomy). In cases of UPD associated with one isochromosome of the short arm and one isochromosome of the long arm of a non-acrocentric chromosome and in cases of UPD associated with a true isochromosome of an acrocentric chromosome, mitotic complementation is assumed. This term describes the formation by misdivision at the centromere during an early mitosis of a monosomic zygote. In cases of UPD associated with an additional marker chromosome, either mitotic formation of the marker chromosome in a trisomic zygote or fertilisation of a gamete with a marker chromosome formed in meiosis by a disomic gamete or by a normal gamete and subsequent duplication are possible. CONCLUSIONS: Research in the field of segmental and/or complex UPD may help to explain undiagnosed non-Mendelian disorders, to recognise hotspots for meiotic and mitotic recombinations, and to show that chromosomal segregation is more complex than previously thought. It may also be helpful to map autosomal recessively inherited genes, genes/regions of genomic imprinting, and dysmorphic phenotypes. Last but not least it would improve genetic counselling.  (+info)

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. (2/158)

Uniparental disomy (UPD) is a rare condition in which a diploid offspring carries a chromosomal pair from a single parent. We now report the first two cases of UPD resulting in retinal degeneration. We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14.1) in a second retinal dystrophy patient. In both families, the gene defect was present in the patient's heterozygous father but not in the patient's mother. Analysis of haplotypes in each nuclear kindred, by use of DNA polymorphisms distributed along both chromosomal arms, indicated the absence of the maternal allele for all informative markers tested on chromosome 1 in the first patient and on chromosome 2 in the second patient. Our results suggest that retinal degeneration in these individuals is due to apparently complete paternal isodisomy involving reduction to homoallelism for RPE65 or MERTK loss-of-function alleles. Our findings provide evidence for the first time, in the case of chromosome 2, and confirm previous observations, in the case of chromosome 1, that there are no paternally imprinted genes on chromosomes 1 and 2 that have a major effect on phenotype.  (+info)

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. (3/158)

The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including fifth finger clinodactyly and skeletal asymmetry. The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, and 18 have been associated with SRS and SRS-like cases. However, only chromosomes 7 and 17 have been consistently implicated in patients with a strict clinical diagnosis of SRS. Two cases of balanced translocations with breakpoints in 17q23.3-q25 and two cases with a hemizygous deletion of the chorionic somatomammatropin gene (CSH1) on 17q24.1 have been associated with SRS, strongly implicating this region. Maternal uniparental disomy for chromosome 7 (mUPD(7)) occurs in up to 10% of SRS patients, with disruption of genomic imprinting underlying the disease status in these cases. Recently, two SRS patients with a maternal duplication of 7p11.2-p13, and a single proband with segmental mUPD for the region 7q31-qter, were described. These key patients define two separate candidate regions for SRS on both the p and q arms of chromosome 7. Both the 7p11.2-p13 and 7q31-qter regions are subject to genomic imprinting and the homologous regions in the mouse are associated with imprinted growth phenotypes. This review provides an overview of the genetics of SRS, and focuses on the newly defined candidate regions on chromosome 7. The analyses of imprinted candidate genes within 7p11.2-p13 and 7q31-qter, and gene candidates on distal 17q, are discussed.  (+info)

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. (4/158)

Beckwith-Wiedemann syndrome (BWS) is a congenital cancer-predisposition syndrome associated with embryonal cancers, macroglossia, macrosomia, ear pits or ear creases, and midline abdominal-wall defects. The most common constitutional abnormalities in BWS are epigenetic, involving abnormal methylation of either H19 or LIT1, which encode untranslated RNAs on 11p15. We hypothesized that different epigenetic alterations would be associated with specific phenotypes in BWS. To test this hypothesis, we performed a case-cohort study, using the BWS Registry. The cohort consisted of 92 patients with BWS and molecular analysis of both H19 and LIT1, and these patients showed the same frequency of clinical phenotypes as those patients in the Registry from whom biological samples were not available. The frequency of altered DNA methylation of H19 in patients with cancer was significantly higher, 56% (9/16), than the frequency in patients without cancer, 17% (13/76; P=.002), and cancer was not associated with LIT1 alterations. Furthermore, the frequency of altered DNA methylation of LIT1 in patients with midline abdominal-wall defects and macrosomia was significantly higher, 65% (41/63) and 60% (46/77), respectively, than in patients without such defects, 34% (10/29) and 18% (2/11), respectively (P=.012 and P=.02, respectively). Additionally, paternal uniparental disomy (UPD) of 11p15 was associated with hemihypertrophy (P=.003), cancer (P=.03), and hypoglycemia (P=.05). These results define an epigenotype-phenotype relationship in BWS, in which aberrant methylation of H19 and LIT1 and UPD are strongly associated with cancer risk and specific birth defects.  (+info)

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. (5/158)

Approximately 15-20% of all clinically recognised pregnancies abort, most commonly between 8-12 gestational weeks. While the majority of early pregnancy losses is attributed to cytogenetic abnormalities, the aetiology of approximately 40% of early abortions remains unclear. To determine additional factors causing spontaneous abortions we retrospectively searched for uniparental disomies (UPD) in 77 cytogenetically normal diploid spontaneous abortions. In all cases an unbalanced chromosome anomaly was ruled out by cytogenetic investigation of chorionic/amniotic membranes and/or chorionic villi. For UPD screening microsatellite analyses were performed on DNA of abortion specimens and parental blood using highly polymorphic markers showing UPD in two cases. The distribution of markers analysed indicated maternal heterodisomy for chromosome 9 (UPhD(9)mat) in case 1 and paternal isodisomy for chromosome 21 (UPiD(21)pat) in case 2. The originating mechanism suggested was monosomy complementation in UPiD(21)pat and trisomy rescue in UPhD(9)mat. In the case of UPhD(9)mat purulent chorioamnionitis was noted and a distinctly growth retarded embryo of 3 cm crown-rump length showing no gross external malformations. Histological analysis in the case of UPiD(21)pat suggested a primary anlage defect. Our results indicate that less than 3% of genetically unexplained pregnancy wastage is associated with total chromosome UPD. UPD may contribute to anlage defects of human conception. Chromosome aneuploidy correction can occur in very early cleavage stages. More research, however, ought to be performed into placental mosaicism to further clarify timing and mechanisms involved in foetal UPD.  (+info)

Embryonic stem cells and somatic cells differ in mutation frequency and type. (6/158)

Pluripotent embryonic stem (ES) cells have been used to produce genetically modified mice as experimental models of human genetic diseases. Increasingly, human ES cells are being considered for their potential in the treatment of injury and disease. Here we have shown that mutation in murine ES cells, heterozygous at the selectable Aprt locus, differs from that in embryonic somatic cells. The mutation frequency in ES cells is significantly lower than that in mouse embryonic fibroblasts, which is similar to that in adult cells in vivo. The distribution of spontaneous mutagenic events is remarkably different between the two cell types. Although loss of the functional allele is the predominant mutation type in both cases, representing about 80% of all events, mitotic recombination accounted for all loss of heterozygosity events detected in somatic cells. In contrast, mitotic recombination in ES cells appeared to be suppressed and chromosome loss/reduplication, leading to uniparental disomy (UPD), represented more than half of the loss of heterozygosity events. Extended culture of ES cells led to accumulation of cells with adenine phosphoribosyltransferase deficiency and UPD. Because UPD leads to reduction to homozygosity at multiple recessive disease loci, including tumor suppressor loci, in the affected chromosome, the increased risk of tumor formation after stem cell therapy should be viewed with concern.  (+info)

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. (7/158)

Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.  (+info)

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. (8/158)

Retinitis pigmentosa (RP) and allied diseases are heterogeneous clinically and genetically. Here we summarize the retinal cell types involved in these diseases, the large number of genes that cause them, and the variety of inheritance patterns that the affected families display. Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%.  (+info)

Uniparental disomy (UPD) is a chromosomal abnormality where an individual receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent. This occurs when there is an error in gamete formation, such as nondisjunction or segregation defects during meiosis, resulting in the production of gametes with abnormal numbers of chromosomes.

There are two types of UPD: heterodisomy and isodisomy. Heterodisomy occurs when an individual receives two different copies of a chromosome from one parent, while isodisomy occurs when an individual receives two identical copies of a chromosome from one parent.

UPD can have significant genetic consequences, particularly if the affected chromosome contains imprinted genes, which are genes that are expressed differently depending on whether they are inherited from the mother or father. UPD can lead to abnormal gene expression and may result in developmental disorders, growth abnormalities, and increased risk of certain diseases, such as Prader-Willi syndrome and Angelman syndrome.

It is important to note that UPD is a rare event and occurs in less than 1% of the population. However, it can have serious health consequences, and genetic counseling and testing may be recommended for individuals with a family history of chromosomal abnormalities or developmental disorders.

Prader-Willi Syndrome (PWS) is a genetic disorder that affects several parts of the body and is characterized by a range of symptoms including:

1. Developmental delays and intellectual disability.
2. Hypotonia (low muscle tone) at birth, which can lead to feeding difficulties in infancy.
3. Excessive appetite and obesity, typically beginning around age 2, due to a persistent hunger drive and decreased satiety.
4. Behavioral problems such as temper tantrums, stubbornness, and compulsive behaviors.
5. Hormonal imbalances leading to short stature, small hands and feet, incomplete sexual development, and decreased bone density.
6. Distinctive facial features including a thin upper lip, almond-shaped eyes, and a narrowed forehead.
7. Sleep disturbances such as sleep apnea or excessive daytime sleepiness.

PWS is caused by the absence of certain genetic material on chromosome 15, which results in abnormal gene function. It affects both males and females equally and has an estimated incidence of 1 in 10,000 to 30,000 live births. Early diagnosis and management can help improve outcomes for individuals with PWS.

Genomic imprinting is a epigenetic process that leads to the differential expression of genes depending on their parental origin. It involves the methylation of certain CpG sites in the DNA, which results in the silencing of one of the two copies of a gene, either the maternal or paternal allele. This means that only one copy of the gene is active and expressed, while the other is silent.

This phenomenon is critical for normal development and growth, and it plays a role in the regulation of genes involved in growth and behavior. Genomic imprinting is also associated with certain genetic disorders, such as Prader-Willi and Angelman syndromes, which occur when there are errors in the imprinting process that lead to the absence or abnormal expression of certain genes.

It's important to note that genomic imprinting is a complex and highly regulated process that is not yet fully understood. Research in this area continues to provide new insights into the mechanisms underlying gene regulation and their impact on human health and disease.

Angelman Syndrome is a genetic disorder that affects the nervous system and is characterized by intellectual disability, developmental delay, lack of speech or limited speech, movement and balance disorders, and a happy, excitable demeanor. Individuals with Angelman Syndrome often have a distinctive facial appearance, including widely spaced teeth, a wide mouth, and protruding tongue. Seizures are also common in individuals with this condition.

The disorder is caused by the absence or malfunction of a gene called UBE3A, which is located on chromosome 15. In about 70% of cases, the deletion of a portion of chromosome 15 that includes the UBE3A gene is responsible for the syndrome. In other cases, mutations in the UBE3A gene or inheritance of two copies of chromosome 15 from the father (uniparental disomy) can cause the disorder.

There is no cure for Angelman Syndrome, but early intervention with physical therapy, speech therapy, and other supportive therapies can help improve outcomes. Anticonvulsant medications may be used to manage seizures. The prognosis for individuals with Angelman Syndrome varies, but most are able to live active, fulfilling lives with appropriate support and care.

Human chromosome pair 15 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 15 includes two homologous chromosomes, meaning they have the same size, shape, and gene content but may contain slight variations in their DNA sequences.

These chromosomes play a crucial role in inheritance and the development and function of the human body. Chromosome pair 15 contains around 100 million base pairs of DNA and approximately 700 protein-coding genes, which are involved in various biological processes such as growth, development, metabolism, and regulation of gene expression.

Abnormalities in chromosome pair 15 can lead to genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by the loss or alteration of specific regions on chromosome 15.

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder that affects several parts of the body. It is characterized by an increased risk of developing certain tumors, especially during the first few years of life. The symptoms and features of BWS can vary widely among affected individuals.

The medical definition of Beckwith-Wiedemann syndrome includes the following major criteria:

1. Excessive growth before birth (macrosomia) or in infancy (infantile gigantism)
2. Enlargement of the tongue (macroglossia)
3. Abdominal wall defects, such as an omphalocele (protrusion of abdominal organs through the belly button) or a diastasis recti (separation of the abdominal muscles)
4. Enlargement of specific internal organs, like the kidneys, liver, or pancreas
5. A distinctive facial appearance, which may include ear creases or pits, wide-set eyes, and a prominent jaw

Additional findings in BWS can include:

1. Increased risk of developing embryonal tumors, such as Wilms tumor (a type of kidney cancer), hepatoblastoma (a liver cancer), and neuroblastoma (a nerve tissue cancer)
2. Hypoglycemia (low blood sugar) in infancy due to hyperinsulinism (overproduction of insulin)
3. Asymmetric growth, where one side of the body or a specific region is significantly larger than the other
4. Ear abnormalities, such as cupped ears or low-set ears
5. Developmental delays and learning disabilities in some cases

Beckwith-Wiedemann syndrome is caused by changes in the chromosome 11p15 region, which contains several genes that regulate growth and development. The most common cause of BWS is an epigenetic abnormality called paternal uniparental disomy (UPD), where both copies of this region come from the father instead of one copy from each parent. Other genetic mechanisms, such as mutations in specific genes or imprinting center defects, can also lead to BWS.

The diagnosis of Beckwith-Wiedemann syndrome is typically based on clinical findings and confirmed by molecular testing. Management includes regular monitoring for tumor development, controlling hypoglycemia, and addressing any other complications as needed. Surgical intervention may be required in cases of organ enlargement or structural abnormalities. Genetic counseling is recommended for affected individuals and their families to discuss the risks of recurrence and available reproductive options.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Macroglossia is a medical term that refers to an abnormally large tongue in relation to the size of the oral cavity. It can result from various conditions, including certain genetic disorders (such as Down syndrome and Beckwith-Wiedemann syndrome), hormonal disorders (such as acromegaly), inflammatory diseases (such as amyloidosis), tumors or growths on the tongue, or neurological conditions. Macroglossia can cause difficulties with speaking, swallowing, and breathing, particularly during sleep. Treatment depends on the underlying cause but may include corticosteroids, radiation therapy, surgery, or a combination of these approaches.

The term "Fathers" is a general term used to describe male parents or parental figures. It does not have a specific medical definition. In the context of genetics and reproduction, the father is the biological male who contributes his sperm to fertilize an egg, resulting in conception and pregnancy. However, it's important to note that there are many different types of families and parental relationships, and not all fathers are biological parents or male.

Human chromosome pair 14 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of the pair contains a single very long DNA molecule that carries an identical set of genes and other genetic elements, totaling approximately 105 million base pairs. These chromosomes play a crucial role in the development, functioning, and reproduction of human beings.

Chromosome 14 is one of the autosomal chromosomes, meaning it is not involved in determining the sex of an individual. It contains around 800-1,000 genes that provide instructions for producing various proteins responsible for numerous cellular functions and processes. Some notable genes located on chromosome 14 include those associated with neurodevelopmental disorders, cancer susceptibility, and immune system regulation.

Human cells typically have 23 pairs of chromosomes, including 22 autosomal pairs (numbered 1-22) and one pair of sex chromosomes (XX for females or XY for males). Chromosome pair 14 is the eighth largest autosomal pair in terms of its total length.

It's important to note that genetic information on chromosome 14, like all human chromosomes, can vary between individuals due to genetic variations and mutations. These differences contribute to the unique characteristics and traits found among humans.

Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.

In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.

Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.

Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.

Nondisjunction is a genetic term that refers to the failure of homologous chromosomes or sister chromatids to properly separate during cell division, resulting in an abnormal number of chromosomes in the daughter cells. This can occur during either mitosis (resulting in somatic mutations) or meiosis (leading to gametes with an incorrect number of chromosomes).

In humans, nondisjunction of chromosome 21 during meiosis is the most common cause of Down syndrome, resulting in three copies of chromosome 21 (trisomy 21) in the affected individual. Nondisjunction can also result in other aneuploidies, such as Turner syndrome (X monosomy), Klinefelter syndrome (XXY), and Edwards syndrome (trisomy 18).

Nondisjunction is typically a random event, although maternal age has been identified as a risk factor for nondisjunction during meiosis. In some cases, structural chromosomal abnormalities or genetic factors may predispose an individual to nondisjunction events.

Trisomy is a genetic condition where there is an extra copy of a particular chromosome, resulting in 47 chromosomes instead of the typical 46 in a cell. This usually occurs due to an error in cell division during the development of the egg, sperm, or embryo.

Instead of the normal pair, there are three copies (trisomy) of that chromosome. The most common form of trisomy is Trisomy 21, also known as Down syndrome, where there is an extra copy of chromosome 21. Other forms include Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), which are associated with more severe developmental issues and shorter lifespans.

Trisomy can also occur in a mosaic form, where some cells have the extra chromosome while others do not, leading to varying degrees of symptoms depending on the proportion of affected cells.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Human chromosome pair 11 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are located on the eleventh position in the standard karyotype, which is a visual representation of the 23 pairs of human chromosomes.

Chromosome 11 is one of the largest human chromosomes and contains an estimated 135 million base pairs. It contains approximately 1,400 genes that provide instructions for making proteins, as well as many non-coding RNA molecules that play a role in regulating gene expression.

Chromosome 11 is known to contain several important genes and genetic regions associated with various human diseases and conditions. For example, it contains the Wilms' tumor 1 (WT1) gene, which is associated with kidney cancer in children, and the neurofibromatosis type 1 (NF1) gene, which is associated with a genetic disorder that causes benign tumors to grow on nerves throughout the body. Additionally, chromosome 11 contains the region where the ABO blood group genes are located, which determine a person's blood type.

It's worth noting that human chromosomes come in pairs because they contain two copies of each gene, one inherited from the mother and one from the father. This redundancy allows for genetic diversity and provides a backup copy of essential genes, ensuring their proper function and maintaining the stability of the genome.

Chorionic villi sampling (CVS) is a prenatal testing procedure that involves taking a small sample of the chorionic villi, which are finger-like projections of the placenta that contain fetal cells. The sample is then tested for genetic disorders and chromosomal abnormalities, such as Down syndrome.

CVS is typically performed between the 10th and 12th weeks of pregnancy and carries a small risk of miscarriage (about 1 in 100 to 1 in 200 procedures). The results of CVS can provide important information about the health of the fetus, allowing parents to make informed decisions about their pregnancy. However, it is important to note that CVS does not detect all genetic disorders and may produce false positive or false negative results in some cases. Therefore, follow-up testing may be necessary.

SnRNP (small nuclear ribonucleoprotein) core proteins are a group of proteins that are associated with small nuclear RNAs (snRNAs) to form small nuclear ribonucleoprotein particles. These particles play crucial roles in various aspects of RNA processing, such as splicing, 3' end formation, and degradation.

The snRNP core proteins include seven Sm proteins (B, D1, D2, D3, E, F, and G) that form a heptameric ring-like structure called the Sm core, which binds to a conserved sequence motif in the snRNAs called the Sm site. In addition to the Sm proteins, there are also other core proteins such as Sm like (L) proteins and various other protein factors that associate with specific snRNP particles.

Together, these snRNP core proteins help to stabilize the snRNA, facilitate its assembly into functional ribonucleoprotein complexes, and participate in the recognition and processing of target RNAs during post-transcriptional regulation.

Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth with subsequent normalization of head circumference, a prominent forehead (frontal bossing), a small jaw (micrognathia), body asymmetry, and feeding difficulties in early life. Some individuals may also have clinodactyly (curving of the fifth finger towards the fourth), wide-spaced fifth fingers, and downturned corners of the mouth.

The genetic basis for SRS is heterogeneous, but the most common genetic abnormality associated with this syndrome is hypomethylation of the H19/IGF2:IG-DMR (imprinting control region) on chromosome 11p15.5. This region regulates the expression of two neighboring genes, IGF2 and H19, which are imprinted and expressed in a parent-of-origin-specific manner. In SRS, the hypomethylation leads to decreased IGF2 expression and increased H19 expression, which is thought to contribute to the growth retardation observed in this syndrome.

Individuals with SRS may have developmental delays, learning disabilities, and behavioral problems, although their cognitive abilities can range from normal to mildly impaired. They are also at an increased risk of developing certain medical conditions, such as low blood sugar (hypoglycemia), heart defects, kidney abnormalities, and a higher risk of childhood cancer, particularly Wilms' tumor.

Diagnosis of SRS is typically based on clinical criteria, including growth parameters, physical features, and developmental history. Genetic testing for hypomethylation at the H19/IGF2:IG-DMR region can confirm the diagnosis in many cases. Management of SRS involves a multidisciplinary approach, with interventions focused on addressing specific symptoms and promoting optimal growth and development.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Isochromosomes are abnormal chromosomes that contain identical arms on both sides, instead of having one arm longer than the other. This occurs due to an error in cell division where the centromere, the region where the chromatids (the two copies of chromosome) are attached, is duplicated and then separated improperly. As a result, each new chromosome has two identical arms.

Isochromosomes can lead to genetic disorders because they can disrupt the balance of genes on the chromosome. For example, if an isochromosome forms for chromosome 18 (i(18)), there will be three copies of the genes on one arm and only one copy on the other arm, leading to an overexpression of some genes and a loss of expression of others. This can cause developmental abnormalities and intellectual disabilities.

Isochromosomes are often associated with certain types of cancer, as well as genetic disorders such as Turner syndrome and Klinefelter syndrome.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.

There are two main types of growth disorders:

1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.

Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.

Steatorrhea is a medical condition characterized by the excessive amount of fat in stools, which can make them appear greasy, frothy, and foul-smelling. This occurs due to poor absorption of dietary fats in the intestines, a process called malabsorption. The most common causes of steatorrhea include conditions that affect the pancreas, such as cystic fibrosis or chronic pancreatitis, celiac disease, and other gastrointestinal disorders. Symptoms associated with steatorrhea may include abdominal pain, bloating, diarrhea, weight loss, and vitamin deficiencies due to malabsorption of fat-soluble vitamins (A, D, E, K). The diagnosis typically involves testing stool samples for fat content and further investigations to determine the underlying cause. Treatment is focused on addressing the underlying condition and providing dietary modifications to manage symptoms.

Loss of Heterozygosity (LOH) is a term used in genetics to describe the loss of one copy of a gene or a segment of a chromosome, where there was previously a pair of different genes or chromosomal segments (heterozygous). This can occur due to various genetic events such as mutation, deletion, or mitotic recombination.

LOH is often associated with the development of cancer, as it can lead to the loss of tumor suppressor genes, which normally help to regulate cell growth and division. When both copies of a tumor suppressor gene are lost or inactivated, it can result in uncontrolled cell growth and the formation of a tumor.

In medical terms, LOH is used as a biomarker for cancer susceptibility, progression, and prognosis. It can also be used to identify individuals who may be at increased risk for certain types of cancer, or to monitor patients for signs of cancer recurrence.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

Myelodysplastic-myeloproliferative diseases (MDS/MPD) are a group of rare and complex bone marrow disorders that exhibit features of both myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). MDS is characterized by ineffective hematopoiesis, leading to cytopenias, and dysplastic changes in the bone marrow. MPNs are clonal disorders of the hematopoietic stem cells resulting in increased proliferation of one or more cell lines, often leading to elevated blood counts.

MDS/MPD share features of both these entities, with patients showing signs of both ineffective hematopoiesis and increased cell production. These disorders have overlapping clinical, laboratory, and morphological characteristics, making their classification challenging. The World Health Organization (WHO) has recognized several MDS/MPD subtypes, including chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), atypical chronic myeloid leukemia (aCML), and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN, U).

The pathogenesis of MDS/MPD involves genetic mutations that affect various cellular processes, such as signal transduction, epigenetic regulation, and splicing machinery. The prognosis for patients with MDS/MPD varies depending on the specific subtype, age, performance status, and the presence of certain genetic abnormalities. Treatment options may include supportive care, chemotherapy, targeted therapy, or stem cell transplantation.

Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.

Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.

Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.

Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

An umbilical hernia is a type of hernia that occurs at the umbilicus, or belly button. It results from a protrusion of abdominal contents through a weakened area in the abdominal wall surrounding the navel. This condition is common in newborns and infants, especially premature babies, due to incomplete closure of the abdominal muscles during development.

In most cases, umbilical hernias in children close on their own by age 3-4 or by the time they reach school age. However, if the hernia is still present after this age, surgical intervention may be required to prevent potential complications such as incarceration (where the herniated tissue becomes trapped and cannot be pushed back in) or strangulation (where the blood supply to the herniated tissue is cut off, leading to tissue death).

Adults can also develop umbilical hernias, often as a result of increased pressure in the abdomen due to obesity, pregnancy, heavy lifting, or persistent coughing. Umbilical hernias in adults are generally more likely to require surgical repair due to the higher risk of complications.

I believe there may be a misunderstanding in your question. "Mothers" is a term that refers to individuals who have given birth to and raised children. It is not a medical term with a specific definition. If you are referring to a different word or term, please clarify so I can provide a more accurate response.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Long non-coding RNA (lncRNA) is a type of RNA molecule that is longer than 200 nucleotides and does not encode for proteins. They are involved in various cellular processes such as regulation of gene expression, chromosome remodeling, and modulation of protein function. LncRNAs can be located in the nucleus or cytoplasm and can interact with DNA, RNA, and proteins to bring about their functions. Dysregulation of lncRNAs has been implicated in various human diseases, including cancer.

Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.

Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.

Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.

It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.

Human chromosome pair 20 is one of the 23 pairs of human chromosomes present in every cell of the body, except for the sperm and egg cells which contain only 23 individual chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of genes.

Human chromosome pair 20 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the junction of the two arms. The short arm of chromosome 20 is very small and contains few genes, while the long arm contains several hundred genes that play important roles in various biological processes.

Chromosome pair 20 is associated with several genetic disorders, including DiGeorge syndrome, which is caused by a deletion of a portion of the long arm of chromosome 20. This syndrome is characterized by birth defects affecting the heart, face, and immune system. Other conditions associated with abnormalities of chromosome pair 20 include some forms of intellectual disability, autism spectrum disorder, and cancer.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Translocation, genetic, refers to a type of chromosomal abnormality in which a segment of a chromosome is transferred from one chromosome to another, resulting in an altered genome. This can occur between two non-homologous chromosomes (non-reciprocal translocation) or between two homologous chromosomes (reciprocal translocation). Genetic translocations can lead to various clinical consequences, depending on the genes involved and the location of the translocation. Some translocations may result in no apparent effects, while others can cause developmental abnormalities, cancer, or other genetic disorders. In some cases, translocations can also increase the risk of having offspring with genetic conditions.

DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.

DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.

In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Human chromosome pair 1 refers to the first pair of chromosomes in a set of 23 pairs found in the cells of the human body, excluding sex cells (sperm and eggs). Each cell in the human body, except for the gametes, contains 46 chromosomes arranged in 23 pairs. These chromosomes are rod-shaped structures that contain genetic information in the form of DNA.

Chromosome pair 1 is the largest pair, making up about 8% of the total DNA in a cell. Each chromosome in the pair consists of two arms - a shorter p arm and a longer q arm - connected at a centromere. Chromosome 1 carries an estimated 2,000-2,500 genes, which are segments of DNA that contain instructions for making proteins or regulating gene expression.

Defects or mutations in the genes located on chromosome 1 can lead to various genetic disorders and diseases, such as Charcot-Marie-Tooth disease type 1A, Huntington's disease, and certain types of cancer.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Bivalvia is a class of mollusks, also known as "pelecypods," that have a laterally compressed body and two shells or valves. These valves are hinged together on one side and can be opened and closed to allow the animal to feed or withdraw into its shell for protection.

Bivalves include clams, oysters, mussels, scallops, and numerous other species. They are characterized by their simple body structure, which consists of a muscular foot used for burrowing or anchoring, a soft mantle that secretes the shell, and gills that serve both as respiratory organs and feeding structures.

Bivalves play an important role in aquatic ecosystems as filter feeders, helping to maintain water quality by removing particles and organic matter from the water column. They are also commercially important as a source of food for humans and other animals, and their shells have been used historically for various purposes such as tools, jewelry, and building materials.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Fetal growth retardation, also known as intrauterine growth restriction (IUGR), is a condition in which a fetus fails to grow at the expected rate during pregnancy. This can be caused by various factors such as maternal health problems, placental insufficiency, chromosomal abnormalities, and genetic disorders. The fetus may be smaller than expected for its gestational age, have reduced movement, and may be at risk for complications during labor and delivery. It is important to monitor fetal growth and development closely throughout pregnancy to detect any potential issues early on and provide appropriate medical interventions.

A chromosome inversion is a genetic rearrangement where a segment of a chromosome has been reversed end to end, so that its order of genes is opposite to the original. This means that the gene sequence on the segment of the chromosome has been inverted.

In an inversion, the chromosome breaks in two places, and the segment between the breaks rotates 180 degrees before reattaching. This results in a portion of the chromosome being inverted, or turned upside down, relative to the rest of the chromosome.

Chromosome inversions can be either paracentric or pericentric. Paracentric inversions involve a segment that does not include the centromere (the central constriction point of the chromosome), while pericentric inversions involve a segment that includes the centromere.

Inversions can have various effects on an individual's phenotype, depending on whether the inversion involves genes and if so, how those genes are affected by the inversion. In some cases, inversions may have no noticeable effect, while in others they may cause genetic disorders or predispose an individual to certain health conditions.

Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.

The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.

In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.

Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.

Proto-oncogene proteins c-cbl are a group of E3 ubiquitin ligases that play crucial roles in regulating various cellular processes, including cell survival, proliferation, differentiation, and migration. The c-cbl gene encodes for the c-Cbl protein, which is a member of the Cbl family of proteins that also includes Cbl-b and Cbl-c.

The c-Cbl protein contains several functional domains, including an N-terminal tyrosine kinase binding domain, a RING finger domain, a proline-rich region, and a C-terminal ubiquitin association domain. These domains enable c-Cbl to interact with various signaling molecules, such as receptor tyrosine kinases (RTKs), G protein-coupled receptors (GPCRs), and growth factor receptors, and regulate their activity through ubiquitination.

Ubiquitination is a post-translational modification that involves the addition of ubiquitin molecules to proteins, leading to their degradation or altered function. c-Cbl functions as an E3 ubiquitin ligase, which catalyzes the transfer of ubiquitin from an E2 ubiquitin-conjugating enzyme to a specific target protein.

Proto-oncogene proteins c-cbl can act as tumor suppressors by negatively regulating signaling pathways that promote cell growth and survival. Mutations in the c-cbl gene or dysregulation of c-Cbl function have been implicated in various types of cancer, including leukemia, lymphoma, and solid tumors. These mutations can lead to increased RTK signaling, enhanced cell proliferation, and decreased apoptosis, contributing to tumor development and progression.

Myeloproliferative disorders (MPDs) are a group of rare, chronic blood cancers that originate from the abnormal proliferation or growth of one or more types of blood-forming cells in the bone marrow. These disorders result in an overproduction of mature but dysfunctional blood cells, which can lead to serious complications such as blood clots, bleeding, and organ damage.

There are several subtypes of MPDs, including:

1. Chronic Myeloid Leukemia (CML): A disorder characterized by the overproduction of mature granulocytes (a type of white blood cell) in the bone marrow, leading to an increased number of these cells in the blood. CML is caused by a genetic mutation that results in the formation of the BCR-ABL fusion protein, which drives uncontrolled cell growth and division.
2. Polycythemia Vera (PV): A disorder characterized by the overproduction of all three types of blood cells - red blood cells, white blood cells, and platelets - in the bone marrow. This can lead to an increased risk of blood clots, bleeding, and enlargement of the spleen.
3. Essential Thrombocythemia (ET): A disorder characterized by the overproduction of platelets in the bone marrow, leading to an increased risk of blood clots and bleeding.
4. Primary Myelofibrosis (PMF): A disorder characterized by the replacement of normal bone marrow tissue with scar tissue, leading to impaired blood cell production and anemia, enlargement of the spleen, and increased risk of infections and bleeding.
5. Chronic Neutrophilic Leukemia (CNL): A rare disorder characterized by the overproduction of neutrophils (a type of white blood cell) in the bone marrow, leading to an increased number of these cells in the blood. CNL can lead to an increased risk of infections and organ damage.

MPDs are typically treated with a combination of therapies, including chemotherapy, targeted therapy, immunotherapy, and stem cell transplantation. The choice of treatment depends on several factors, including the subtype of MPD, the patient's age and overall health, and the presence of any comorbidities.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

Small nuclear ribonucleoproteins (snRNPs) are a type of ribonucleoprotein (RNP) found within the nucleus of eukaryotic cells. They are composed of small nuclear RNA (snRNA) molecules and associated proteins, which are involved in various aspects of RNA processing, particularly in the modification and splicing of messenger RNA (mRNA).

The snRNPs play a crucial role in the formation of spliceosomes, large ribonucleoprotein complexes that remove introns (non-coding sequences) from pre-mRNA and join exons (coding sequences) together to form mature mRNA. Each snRNP contains a specific snRNA molecule, such as U1, U2, U4, U5, or U6, which recognizes and binds to specific sequences within the pre-mRNA during splicing. The associated proteins help stabilize the snRNP structure and facilitate its interactions with other components of the spliceosome.

In addition to their role in splicing, some snRNPs are also involved in other cellular processes, such as transcription regulation, RNA export, and DNA damage response. Dysregulation or mutations in snRNP components have been implicated in various human diseases, including cancer, neurological disorders, and autoimmune diseases.

Cytogenetic analysis is a laboratory technique used to identify and study the structure and function of chromosomes, which are the structures in the cell that contain genetic material. This type of analysis involves examining the number, size, shape, and banding pattern of chromosomes in cells, typically during metaphase when they are at their most condensed state.

There are several methods used for cytogenetic analysis, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). Karyotyping involves staining the chromosomes with a dye to visualize their banding patterns and then arranging them in pairs based on their size and shape. FISH uses fluorescent probes to label specific DNA sequences, allowing for the detection of genetic abnormalities such as deletions, duplications, or translocations. CGH compares the DNA content of two samples to identify differences in copy number, which can be used to detect chromosomal imbalances.

Cytogenetic analysis is an important tool in medical genetics and is used for a variety of purposes, including prenatal diagnosis, cancer diagnosis and monitoring, and the identification of genetic disorders.

Gene dosage, in genetic terms, refers to the number of copies of a particular gene present in an organism's genome. Each gene usually has two copies (alleles) in diploid organisms, one inherited from each parent. An increase or decrease in the number of copies of a specific gene can lead to changes in the amount of protein it encodes, which can subsequently affect various biological processes and phenotypic traits.

For example, gene dosage imbalances have been associated with several genetic disorders, such as Down syndrome (trisomy 21), where an individual has three copies of chromosome 21 instead of the typical two copies, leading to developmental delays and intellectual disabilities. Similarly, in certain cases of cancer, gene amplification (an increase in the number of copies of a particular gene) can result in overexpression of oncogenes, contributing to tumor growth and progression.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Mytilidae is not a medical term, but a taxonomic category in biology. It refers to a family of marine bivalve mollusks commonly known as mussels. These are filter-feeding organisms that typically attach themselves to hard surfaces in aquatic environments using byssal threads.

While not directly related to human health, certain species of mussels can accumulate toxins from their environment due to processes like biomagnification. When humans consume these contaminated mussels, it can lead to foodborne illnesses such as paralytic shellfish poisoning (PSP), diarrheal shellfish poisoning (DSP), neurotoxic shellfish poisoning (NSP), and amnesic shellfish poisoning (ASP). Therefore, monitoring and regulating the safety of mussels and other bivalves is important in public health.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Oligonucleotide Array Sequence Analysis is a type of microarray analysis that allows for the simultaneous measurement of the expression levels of thousands of genes in a single sample. In this technique, oligonucleotides (short DNA sequences) are attached to a solid support, such as a glass slide, in a specific pattern. These oligonucleotides are designed to be complementary to specific target mRNA sequences from the sample being analyzed.

During the analysis, labeled RNA or cDNA from the sample is hybridized to the oligonucleotide array. The level of hybridization is then measured and used to determine the relative abundance of each target sequence in the sample. This information can be used to identify differences in gene expression between samples, which can help researchers understand the underlying biological processes involved in various diseases or developmental stages.

It's important to note that this technique requires specialized equipment and bioinformatics tools for data analysis, as well as careful experimental design and validation to ensure accurate and reproducible results.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

... (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent ... "Uniparental disomy". Department of Medical Genetics, University of British Columbia. Archived from the original on 2002-06-17 ... "Meiosis: Uniparental Disomy". Retrieved 29 February 2016. Angelman Syndrome, Online Mendelian Inheritance in Man "OMIM Entry ... ISBN 0-8153-4183-0. King DA (2013). "A novel method for detecting uniparental disomy from trio genotypes identifies a ...
Uniparental Disomy Test: Samples from fetus or child and both parents are needed for analysis. Chromosome of interest must be ... Normally, a total uniparental disomy of the chromosome 6 is evidenced, but partial one can be identified. Therefore, genetic ... Therefore, inheriting two copies of the gene region from one's father (either through uniparental disomy, or receiving two ... "UNIPD - Clinical: Uniparental Disomy". www.mayomedicallaboratories.com. Retrieved 2017-11-07. Lemelman, Letourneau & Greeley ...
A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies ... "Uniparental disomy in cartilage-hair hypoplasia". European Journal of Human Genetics. 5 (1): 35-42. doi:10.1159/000484729. PMID ...
Uniparental paternal disomy in Angelman's syndrome. Lancet. 1991 Mar 23;337(8743):694-7. PMID 1672177. Pembrey M. Imprinting ...
This phenomenon is called paternal uniparental disomy (UPD). People with paternal UPD for chromosome 15 have two copies of the ... This phenomenon is called maternal uniparental disomy. Because some genes are normally active only on the paternal copy of this ... "Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy". ...
Chávez B, Valdez E, Vilchis F (2000). "Uniparental disomy in steroid 5alpha-reductase 2 deficiency". J. Clin. Endocrinol. Metab ...
1998). "PEG1 expression in maternal uniparental disomy 7". Ann. Genet. 40 (4): 211-5. PMID 9526615. Riesewijk AM, Blagitko N, ...
This paper proposed four mechanisms for uniparental disomy, each of which has since been shown to occur. His group co- ... In 1988, Beaudet's laboratory published a paper regarding the mechanism by which uniparental disomy might cause certain types ... "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217-226. PMC 1715272 ...
Furthermore, uniparental paternal disomy (UPD) of KCNQ1OT1 is strongly associated with Wilms' tumor. In fact, three out of four ... Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C (June 1991). "Uniparental paternal disomy ...
Genomic imprinting and uniparental disomy, however, may affect inheritance patterns. The divisions between recessive and ...
Yip, Moh-Ying (April 2014). "Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing". ...
... is a form of uniparental disomy in which both copies of a chromosome, or parts of it, are inherited from the same ... Some authors use the term uniparental disomy and isodisomy interchangeably. This genetic abnormality can result in the birth of ... "Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations". The American Journal of Human Genetics. 92 ... "Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or ...
There are also cryptic translocations and segmental uniparental disomy (UPD). There are increasing reports of these variations ...
SNRPN-methylation is used to detect uniparental disomy of chromosome 15. After fluorescent-in-situ-hybridization has confirmed ... can reveal whether the patient has uniparental disomy. SNRPN is maternally methylated (silenced). UBE3A appears to be ...
July 1998). "Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue". Prenatal ... Shaffer LG, McCaskill C, Adkins K, Hassold TJ (October 1998). "Systematic search for uniparental disomy in early fetal losses: ... Ledbetter DH, Engel E (1 September 1995). "Uniparental disomy in humans: development of an imprinting map and its implications ... April 1997). "Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy ...
Other, less common mechanisms include uniparental disomy, sporadic mutations, chromosome translocations, and gene deletions.[ ...
Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008 Feb 1;111(3 ... Possible causes for copy-neutral LOH include acquired uniparental disomy (UPD) and gene conversion. In UPD, a person receives ...
If both of the retained chromosomes come from the same parent, then uniparental disomy results. If the retained chromosomes ... 2 February 2016). "Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a ... though uniparental disomy may occur and result in syndromes such as Prader-Willi and Angelman syndromes due to genetic ...
1998). "Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis". The ...
The second frequent genetic abnormality (~ 25-30% of cases) is maternal uniparental disomy of chromosome 15. The mechanism is ... uniparental disomy or loss of the imprinted gene expression in the 15q11-q13 region. Whether an individual exhibits PWS or AS ...
Uniparental Disomy: UPD occurs when both copies of a gene or genomic region are inherited from the same parent. This is ... Copy neutral LOH (acquired uniparental disomy) has been reported at key loci in ALL, such as CDKN2A gene at 9p, which have ... Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, Maciejewski J (February 2008). "Chromosomal lesions and uniparental disomy ... Gondek LP, Tiu R, O'Keefe CL, Sekeres MA, Theil KS, MacIejewski JP (2008). "Chromosomal lesions and uniparental disomy detected ...
Mutations in this gene were first identified in myeloid neoplasms with deletion or uniparental disomy at 4q24. TET2 may also be ...
... of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child". Journal of Medical Genetics. 38 (12 ...
In 10% of the cases the syndrome is associated with maternal uniparental disomy (UPD) on chromosome 7. This is an imprinting ...
... of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child". Journal of Medical Genetics. 38 (12 ...
Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood. 2008 Feb 1;111(3 ...
Robertsonian translocations involving chromosome 14 also carry a slight risk of uniparental disomy 14 due to trisomy rescue. ...
Uniparental disomy denotes the situation where both chromosomes of a chromosome pair are inherited from the same parent and are ... Uniparental disomy of chromosome 15 is, for example, seen in some cases of Prader-Willi syndrome and Angelman syndrome. ... "Smoking cigarettes is associated with increased sperm disomy in teenage men". Fertil. Steril. 70 (4): 715-23. doi:10.1016/S0015 ...
... s, however, have an additional advantage of being able to detect copy-neutral LOH (also called uniparental disomy or ...
This can be due to genetic errors such as the deletion or mutation of a segment of chromosome 15, uniparental disomy, or ... paternal uniparental disomy). As the father's versions are inactivated by a process known as genomic imprinting, no functional ...
Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent ... "Uniparental disomy". Department of Medical Genetics, University of British Columbia. Archived from the original on 2002-06-17 ... "Meiosis: Uniparental Disomy". Retrieved 29 February 2016. Angelman Syndrome, Online Mendelian Inheritance in Man "OMIM Entry ... ISBN 0-8153-4183-0. King DA (2013). "A novel method for detecting uniparental disomy from trio genotypes identifies a ...
Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. Learn more. ... Uniparental disomy. Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a chromosome ... Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. ...
Uniparental disomy UPD Traditional Chinese. QUICK READ. Make a donation. With your donations we can continue to produce our ...
Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these ... Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these ... Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis Hum Mol ...
Genomic imprinting effects have been implicated in familial and non-familial BWS, and uniparental disomy (UPD) for chromosome ...
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short ... Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7. Disease definition ...
Angelman syndrome, Beckwith-Wiedemann syndrome, Congenital hyperinsulinism, Genome-wide uniparental disomy, Mosaicism. in ... article{2d53fb9b-48e6-43d0-ae52-d10ef2794ffd, abstract = {{,p,Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a ... Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of ... Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of ...
This test is used to see if a child has certain chromosome changes.
Questions tagged with uniparental_disomy. nbme27 : A 5-year-old boy who... {reveal}. Question#4 (reveal difficulty score) A 5- ...
Maternal Uniparental Disomy, Chromosome 14. Center for Human Genetics Laboratory University Hospitals - University Hospitals ... Uniparental Disomy 14, maternal. Genetics Laboratory Shodair Childrens Hospital. United States. 1. 1. *U Uniparental disomy ...
Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.. R D Nicholls. American Journal of ... Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a ... Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss ...
Willkommen auf der Website des Institutes für Humangenetik
Microarray analysis showed uniparental disomy of chromosome 4.. Interestingly, the only novel variant without strong ...
SNP-based chromosomal microarray and short tandem repeat markers analysis revealed mosaic segmental paternal uniparental disomy ... Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism. *Joanna Yuet- ... Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal ... Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism ...
In 3 percent of cases (uniparental disomy): One inherits both copies of chromosome 15 from their father. Typically, one copy of ...
Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002 Mar. 30(3): ...
Paternal 11p15 uniparental disomy (UPD). A retrospective analysis of patients with adrenocortical tumors at the St. Jude ... Adrenocortical Tumors in Children With Constitutive Chromosome 11p15 Paternal Uniparental Disomy: Implications for Diagnosis ... Childrens Research Hospital that identified six children with wild-type TP53 and germline paternal 11p15 uniparental disomy ( ...
Uniparental heterodisomy. See Genetic Disorders Caused by Imprinting Errors and Uniparental Disomy. Note: Uniparental isodisomy ... Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med. 2016;18:309-15. [PubMed ... Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol ... Imprinting errors. See Genetic Disorders Caused by Imprinting Errors and Uniparental Disomy. ...
Uniparental disomy and human disease: an overview. Am J Med Genet C Semin Med Genet 2010; 154C (03) 329-334 ... A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple ... Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic ... and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, ...
... maternal uniparental disomy or imprinting defects. We report an unusual case of maternal uniparental disomy of chromosome 15 ... Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.. Calounova G, Novotna D ... CONCLUSIONS: This example emphasizes the importance of uniparental disomy testing in pregnancies of carriers of chromosomal ... Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. Neuro Endocrinol Lett. ...
D. Uniparental disomy of the maternal chromosome 15 Explanation. In Prader Willi syndrome, there is typically a deletion or ... The most likely interpretation of the given genotypes is maternal uniparental disomy. This means that the patient has inherited ... Therefore, an alternative explanation for the syndrome in this female could be uniparental disomy of the maternal chromosome 15 ...
Uniparental disomy. Detected (in some cases). Not detectedb. Not detected. Exon-level deletions and duplicationsg. Not detected ... uniparental disomy), or some other etiologies. CMA will miss exon-level deletions and duplications. Therefore, additional and/ ...
Uniparental disomy of chromosome 7 (UPD7) was analyzed by short tandem repeats typing. Serum levels of GH, IGF-I, and IGF- ...
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.. ... disease status: Maternal Uniparental Disomy for chromosome 8. tissue: Peripheral Blood. gender: Female. ...
Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2). J Med Genet 1999;36:633-6. ... Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation. J Hum Genet 1998;43:138-42. ... Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. J Pediatr 1999;134:689 ... Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J Med Genet 1999;36:782-5. ...
Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland]. ... Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland , Tvístæða ...
Individuals with uniparental disomy revealed higher spine BMD compared with deletion subclass; however, the differences were ... There was a trend for a higher BMD in individuals with uniparental disomy. (05/2014) (link) ... The number of individuals with maternal disomy 15/imprinting defect was nearly double in the assisted reproductive technology ... The proportion of individuals with maternal disomy 15/imprinting defects born after assisted reproductive technology was higher ...
The remainder have two maternal chromosome 15s and no paternal 15 (maternal uniparental disomy). Diagnosis of infants with PWS ...
Angelman Syndrome due to paternal uniparental disomy of chromosome 15 (1994). *Angelman syndrome due to paternal uniparental ... Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv ... Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth ... Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay (2000). Journal of medical ...
  • Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. (bmj.com)
  • Temple syndrome (TS) is an imprinting disorder that was first described by Temple et al in 1991 in a report of a male aged 18 years with maternal uniparental disomy of chromosome 14. (bmj.com)
  • Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. (lu.se)
  • Methylation analysis, SNP-based chromosomal microarray and short tandem repeat markers analysis revealed mosaic segmental paternal uniparental disomy (UPD) 11p15.5-p15.1 in the pancreatic tissue, but not the peripheral blood, suggestive of BWS/BW-spectrum HI. (biomedcentral.com)
  • Herein, we report a case of a large-for-gestational-age infant with medically refractory HI due to a paternally transmitted K ATP mutation, who was subsequently diagnosed with mosaic BWS related to mosaic segmental pUPD (paternal uniparental disomy) 11 based on molecular testing of the pancreatic lesion. (biomedcentral.com)
  • The remainder have two maternal chromosome 15s and no paternal 15 (maternal uniparental disomy). (hoagiesgifted.org)
  • Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are disorders that can be caused by uniparental disomy. (chkd.org)
  • Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. (qxmd.com)
  • Some people with Angelman have uniparental disomy or UPD. (cureangelman.org)
  • Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. (nih.gov)
  • Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. (bmj.com)
  • Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. (thieme-connect.com)
  • A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies. (thieme-connect.com)
  • Genome wide UPD, also called uniparental diploidy, is when all chromosomes are inherited from one parent. (wikipedia.org)
  • Here we generated human induced pluripotent stem cells (iPSCs) from patient fibroblasts containing ring chromosomes with large deletions and found that reprogrammed cells lost the abnormal chromosome and duplicated the wild-type homologue through the compensatory uniparental disomy (UPD) mechanism. (ca.gov)
  • Chromosomes from one parent only: this is uniparental disomy (UPD)! (bredagenetics.com)
  • What are genomic imprinting and uniparental disomy? (medlineplus.gov)
  • Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited. (medlineplus.gov)
  • Genomic imprinting effects have been implicated in familial and non-familial BWS, and uniparental disomy (UPD) for chromosome 11 has been reported in sporadic cases. (bmj.com)
  • Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss phenotype-genotype correlations using candidate genes and mouse models, in particular for hypopigmentation. (qxmd.com)
  • The pre- and postnatal genetic tests (noninvasive prenatal testing, array comparative genomic hybridization, karyotype in amniotic fluid cells, karyotype in peripheral blood, and uniparental disomy analysis) revealed the fetal chromosomal status and indicated etiology giving rise to the mosaicism, suggesting a prezygotic meiotic error corrected through late trisomic rescue in the zygote. (thieme-connect.com)
  • Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. (lu.se)
  • Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. (bvsalud.org)
  • SNP arrays and WGS indicated no large deletions or uniparental disomy spanning the U2AF1 locus. (massgenomics.org)
  • Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a genetic locus from only one parent) for 15q11-q13. (qxmd.com)
  • DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. (nih.gov)
  • Although few imprinted genes have been identified, uniparental inheritance of an imprinted gene can result in the loss of gene function, which can lead to delayed development, intellectual disability, or other medical problems. (wikipedia.org)
  • Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other. (wikipedia.org)
  • However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders. (wikipedia.org)
  • Uniparental inheritance of imprinted genes can also result in phenotypical anomalies. (wikipedia.org)
  • Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. (lu.se)
  • causes include uniparental disomy, translocation, or single gene mutation in that region. (medicalmarijuana.com)
  • This whole genome SNP microarray detects CNVs and allows for the analysis of loss of heterozygosity which can be useful in identifying uniparental disomy (UPD). (ggc.org)
  • This SNP array also allows for the analysis of loss of heterozygosity which can be useful in identifying uniparental disomy (UPD) as well as autozygosity (identity by descent). (ggc.org)
  • Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers. (bvsalud.org)
  • Talk to your healthcare provider or a genetic counselor to learn more about uniparental disomy. (chkd.org)
  • Uniparental disomy of chromosome 7 (UPD7) was analyzed by short tandem repeats typing. (nih.gov)
  • Prader-Willi syndrome is a neurobehavioral disorder in which the expression of active paternal alleles of imprinted genes from chromosomal region 15q11-q13 is abolished by deletions, maternal uniparental disomy or imprinting defects. (nel.edu)
  • These include maternal deletion, paternal uniparental disomy, imprinting defects, point mutations or small deletions within the UBE3A gene, which lies within this region. (bharatbook.com)
  • For some families however, the pathway to diagnosis is not so clear, particularly when children demonstrate differential characteristics, commonly seen for those with UBE3A pathogenic variants (ubiquitin protein ligase EA3), imprinting defects or uniparental disomy (patUPD) etiology. (angelmanregistry.info)
  • Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? (bmj.com)
  • Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. (cdc.gov)
  • However, if the UPD-causing event happened during meiosis II, the genotype may include identical copies of the uniparental chromosome (isodisomy), leading to the manifestation of rare recessive disorders. (wikipedia.org)
  • Perinatal hypophosphatasia caused by uniparental isodisomy. (nih.gov)
  • DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome. (nygenome.org)
  • 13. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. (nih.gov)
  • Genetic aberrations affecting the imprinted gene cluster in 14q32 result in distinct phenotypes, known as maternal or paternal uniparental disomy 14 phenotypes (upd(14) mat, upd(14) pat). (uni-koeln.de)
  • Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. (nel.edu)
  • Of the 65 cases identified with disease-causing variants,12 had chromosomal disorders, 54 had monogenic disorders, and one had uniparental disomy. (genomeweb.com)
  • Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes. (tcd.ie)
  • Importantly, and in contrast to most reports in adults, the majority of CBL mutations in JMML patients are germline with acquired uniparental disomy occurring in affected marrow cells. (haematologica.org)