| Literature DB >> 16419101 |
Noriko Miyake1, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Kenji Kurosawa, Hiroshi Kawame, Mie Iwakoshi, Tomoki Kosho, Yoshimitsu Fukushima, Yoshio Makita, Yuji Yokoyama, Takanori Yamagata, Mitsuhiro Kato, Yoko Hiraki, Masayo Nomura, Ko-ichiro Yoshiura, Tatsuya Kishino, Tohru Ohta, Takeshi Mizuguchi, Norio Niikawa, Naomichi Matsumoto.
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.Entities:
Mesh：
Year: 2006 PMID： 16419101 DOI： 10.1002/ajmg.a.31098
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802