Article
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
American journal of medical genetics. Part A - 1 Aug 2004
Walter Sabine, Sandig Klaus, Hinkel Georg K, Mitulla Beate, Ounap Katrin, Sims Giles, Sitska Mari, Utermann Barbara, Viertel Petra, Kalscheuer Vera, Bartsch Oliver
Abstract excerpt
Submicroscopic or subtle aneusomies at the chromosome ends, typically diagnosed by subtelomere fluorescence in situ hybridization (FISH), are a significant cause of idiopathic mental retardation (MR). Some 20 subtelomere studies, including more than 2,500 subjects, have been reported. The studies are not directly comparable because different techniques and patient ascertainment criteria were used, but an analysis...
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