TY - JOUR
T1 - BAC array CGH reveals genomic aberrations in idiopathic mental retardation
AU - Miyake, Noriko
AU - Shimokawa, Osamu
AU - Harada, Naoki
AU - Sosonkina, Nadia
AU - Okubo, Aiko
AU - Kawara, Hiroki
AU - Okamoto, Nobuhiko
AU - Kurosawa, Kenji
AU - Kawame, Hiroshi
AU - Iwakoshi, Mie
AU - Kosho, Tomoki
AU - Fukushima, Yoshimitsu
AU - Makita, Yoshio
AU - Yokoyama, Yuji
AU - Yamagata, Takanori
AU - Kato, Mitsuhiro
AU - Hiraki, Yoko
AU - Nomura, Masayo
AU - Yoshiura, Ko Ichiro
AU - Kishino, Tatsuya
AU - Ohta, Tohru
AU - Mizuguchi, Takeshi
AU - Niikawa, Norio
AU - Matsumoto, Naomichi
PY - 2006/2/1
Y1 - 2006/2/1
N2 - 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).
AB - 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).
KW - BAC array CGH
KW - Chromosomal abnormality
KW - FISH
KW - Mental retardation
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U2 - 10.1002/ajmg.a.31098
DO - 10.1002/ajmg.a.31098
M3 - Article
C2 - 16419101
AN - SCOPUS:31944447396
VL - 140 A
SP - 205
EP - 211
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -