title: BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
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).
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Nadia
authors.initials: N
authors.lastname: Sosonkina
authors.forename: Aiko
authors.initials: A
authors.lastname: Okubo
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kawara
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawame
authors.forename: Mie
authors.initials: M
authors.lastname: Iwakoshi
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Makita
authors.forename: Yuji
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Yoko
authors.initials: Y
authors.lastname: Hiraki
authors.forename: Masayo
authors.initials: M
authors.lastname: Nomura
authors.forename: Ko-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: 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