BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
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).
Miyake
Noriko
N
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Shimokawa
Osamu
O
Harada
Naoki
N
Sosonkina
Nadia
N
Okubo
Aiko
A
Kawara
Hiroki
H
Okamoto
Nobuhiko
N
Kurosawa
Kenji
K
Kawame
Hiroshi
H
Iwakoshi
Mie
M
Kosho
Tomoki
T
Fukushima
Yoshimitsu
Y
Makita
Yoshio
Y
Yokoyama
Yuji
Y
Yamagata
Takanori
T
Kato
Mitsuhiro
M
Hiraki
Yoko
Y
Nomura
Masayo
M
Yoshiura
Ko-ichiro
K
Kishino
Tatsuya
T
Ohta
Tohru
T
Mizuguchi
Takeshi
T
Niikawa
Norio
N
Matsumoto
Naomichi
N
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics*; D005260:Female; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D014178:Translocation, Genetic