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BAC array CGH reveals genomic aberrations in idiopathic mental retardation
Author(s) -
Miyake Noriko,
Shimokawa Osamu,
Harada Naoki,
Sosonkidia,
Okubo Aiko,
Kawara Hiroki,
Okamoto Nobuhiko,
Kurosawa Kenji,
Kawame Hiroshi,
Iwakoshi Mie,
Kosho Tomoki,
Fukushima Yoshimitsu,
Makita Yoshio,
Yokoyama Yuji,
Yamagata Takanori,
Kato Mitsuhiro,
Hiraki Yoko,
Nomura Masayo,
Yoshiura Koichiro,
Kishino Tatsuya,
Ohta Tohru,
Mizuguchi Takeshi,
Niikawa Norio,
Matsumoto Naomichi
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31098
Subject(s) - comparative genomic hybridization , gene duplication , chromosomal translocation , biology , genetics , genome , fish <actinopterygii> , copy number variation , computational biology , copy number analysis , gene , fishery
Abstract Array using 2,173 BAC clones covering the whole human genome has been constructed. All clones spotted were confirmed to show a unique signal at the predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) were analyzed by comparative genomic hybridization using this array. Three deletions, one duplication, and one unbalanced translocation could be detected in five patients, which are likely to contribute to MR. The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPNs). © 2006 Wiley‐Liss, Inc.