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Diverse chromosome breakage mechanisms underlie subtelomeric rearrangements, a common cause of mental retardation
Author(s) -
Rooms Liesbeth,
Reyniers Edwin,
Kooy R. Frank
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20421
Subject(s) - subtelomere , biology , breakpoint , chromosomal translocation , genetics , chromosome , karyotype , hum , gene duplication , gene , art , performance art , art history
Subtelomeric rearrangements are an important cause of both isolated and familial idiopathic mental retardation. A variety of different rearrangements such as pure truncations, unbalanced translocations, interstitial deletions, and inverted duplications have been detected throughout various screening studies. The cause of these aberrations is poorly understood as only few of the breakpoints have been determined and studied. We molecularly characterized the breakpoints of three rearrangements including a 1p subtelomeric deletion, a 1q subtelomeric deletion, and an unbalanced translocation between chromosomes 11q and 20q; we propose that diverse chromosome breakage mechanisms underlie subtelomeric rearrangements. The breakpoint sequences suggest that unusual non‐B‐DNA structures including triplex, tetraplex, and hairpin structures may be involved. In addition, we saw that the seemingly pure truncations of chromosomes 1p and 1q were in fact more complex rearrangements as highly repetitive sequences were joined to the chromosome end at the site of breakage. Hum Mutat 28(2), 177–182, 2007. © 2006 Wiley‐Liss, Inc.