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BAC array CGH reveals genomic aberrations in idiopathic mental retardation
Authors:Miyake Noriko  Shimokawa Osamu  Harada Naoki  Sosonkina Nadia  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 Ko-ichiro  Kishino Tatsuya  Ohta Tohru  Mizuguchi Takeshi  Niikawa Norio  Matsumoto Naomichi
Affiliation:Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
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).
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