Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms
Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring may be attributable to deletion, unbalanced chromosomal translocation, or uniparental disomy. The telomeric regions of chromosomes are rich in both genes and hypervariable minisatellite sequences and may also be particularly prone to cryptic breakage events. Here the author describes and analyzes a general approach to the detection of subtelomeric abnormalities and uniparental disomy in patients with unexplained mental retardation. With 29 available polymorphic systems, [approximately]50%-70% of these abnormalities could currently be detected. Development of subtelomeric HVPs physically localized with respect to their telomers should provide a valuable resource in routine diagnostics. 73 refs., 4 figs., 4 tabs.
- OSTI ID:
- 5017293
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 53:3; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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