Uniparental disomy
Some cases of AS result from inheritance of both chromosomes in the 15 pair from the father, an unusual genetic phenomenon known as uniparental disomy. In this circumstance, there is no chromosome 15 from the mother.
Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
Trinucleotide Repeats: Fragile-X Syndrome
Mitochondrial Inheritance: Leber's Optic Atrophy ...
Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
Detailed information on uniparental disomy
Uses of Genetic Testing ...
uniparental disomy - when two copies of a chromosome come from one parent, rather than one copy from the mother, and one copy from the father.
V
varicella - the virus which causes chickenpox.
Chromosome 1, uniparental disomy 1q12 q21 ... Mental retardation, Growth retardation, Growth retardation, Growth retardation, Underdeveloped midface
Chromosome 10 ring ... underdeveloped scrotum, mental retardation, retarded growth, retarded growth ...
Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome. Genomics. 2007 May;89(5):613-7. Epub 2007 Mar 6. PubMed citation
Cytrynbaum CS, Smith AC, Rubin T, Weksberg R.
"Uniparental disomy in cartilage-hair hypoplasia". Eur J Hum Genet. 5 (1): 35-42. PMID 9156319.
^ Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002).
Ten percent to twenty percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as paternal uniparental disomy (UPD).
The syndrome is caused by deletion or disruption of a gene or genes on the proximal long arm of paternal chromosome 15 or by uniparental disomy of maternal chromosome 15.
An estimated 7 - 10% of patients with this syndrome have a defect in a gene called the maternal uniparental disomy (UPD) for chromosome 7. However, a cause cannot be identified in most patients.
Related Articles Scanning for telomeric deletions and duplications and uniparental disomy… more…
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The opposite phenomenon is seen in the Prader-Willi syndrome, in which a deletion of a nearby region on chromosome 15q is found on the paternally-derived chromosome, or there can be uniparental disomy for the maternally derived chromosome.
In 50% of patients, there is loss of methylation at the KCNQ1OT1 gene in chromosome 11p15 while in 10-20% of patients, there is paternal uniparental disomy of chromosome 11p15.
chromosome 15, which contains this gene, is missing or damaged. In a small number of cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one paternal and one maternal copy (paternal uniparental disomy).
Uniparental disomy - this means the child inherited a particular gene pair from one parent only. This can cause a disorder if it is necessary for the child to have inherited one such gene from each parent.
Copy neutral LOH (acquired uniparental disomy) has been reported at key loci in ALL, such as CDKN2A gene, which have prognostic significance. SNP array virtual karyotyping can readily detect copy neutral LOH.
Loss of the maternally contributed AS region can occur by five genetic mechanisms: deletion, paternal uniparental disomy, imprinting defects, mutation of the ubiquinin-protein ligase (UBE3A) gene and unidentified mechanisms.
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