BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Noriko Miyake, 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 KishinoTohru Ohta, Takeshi Mizuguchi, Norio Niikawa, Naomichi Matsumoto

Research output: Contribution to journalArticlepeer-review

59 Citations (Scopus)

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).

Original languageEnglish
Pages (from-to)205-211
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume140 A
Issue number3
DOIs
Publication statusPublished - 2006 Feb 1
Externally publishedYes

Keywords

  • BAC array CGH
  • Chromosomal abnormality
  • FISH
  • Mental retardation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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