Bloom syndrome and maternal uniparental disomy for chromosome 15
- Children's Hospital, Camperdown, New South Wales (New Zealand)
- Wellington Hospital (New Zealand)
- Waikato Hospital, Hamilton (New Zealand)
- Pennsylvania State Univ., Hershey, PA (United States); and others
Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions. 37 refs., 3 figs., 2 tabs.
- OSTI ID:
- 6822609
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 55:1; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction