The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.

Journal article

A major challenge for human genetics is to identify new causes of mental retardation, which, although present in about 3% of individuals, is unexplained in more than half of all cases. We have developed a strategy to screen for the abnormal inheritance of subtelomeric DNA polymorphisms in individuals with mental retardation and have detected three abnormalities in 99 patients with normal routine karyotypes. Pulsed-field gel electrophoresis and reverse chromosome painting showed that one case ...

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Authors: Flint, J; Wilkie, A; Buckle, V; Winter, R; Holland, A

• Publication status: Published
• Journal: Nature genetics
• Volume: 9
• Issue: 2
• Pages: 132-140
• Publication date: 1995-02-01
• DOI: 10.1038/ng0295-132
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Chromosomes, Human, Pair 22; Chromosome Disorders; Male; Child; Chromosomes, Human, Pair 13; Humans; Female; Gene Rearrangement; Prevalence; Karyotyping; Mental Retardation; Gene Deletion; Adult; Child, Preschool; Chromosome Aberrations; Telomere