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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 I describe and analyze 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 telomeres should provide a valuable resource in routine diagnostics.

Type

Journal article

Journal

Am J Hum Genet

Publication Date

09/1993

Volume

53

Pages

688 - 701

Keywords

Chromosome Aberrations, Chromosome Deletion, Chromosome Disorders, DNA, Satellite, Genetic Variation, Humans, Intellectual Disability, Models, Genetic, Monosomy, Polymorphism, Genetic, Recombination, Genetic, Telomere, Translocation, Genetic