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 Kishino; Tohru Ohta; Takeshi Mizuguchi; Norio Niikawa; Naomichi Matsumoto

doi:10.1002/ajmg.a.31098

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 journal › Article › peer-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 language	English
Pages (from-to)	205-211
Number of pages	7
Journal	American Journal of Medical Genetics
Volume	140 A
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.31098
Publication status	Published - 2006 Feb 1
Externally published	Yes

Keywords

BAC array CGH
Chromosomal abnormality
FISH
Mental retardation

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1002/ajmg.a.31098

Cite this

Miyake, N., Shimokawa, O., Harada, N., Sosonkina, N., Okubo, A., Kawara, H., Okamoto, N., Kurosawa, K., Kawame, H., Iwakoshi, M., Kosho, T., Fukushima, Y., Makita, Y., Yokoyama, Y., Yamagata, T., Kato, M., Hiraki, Y., Nomura, M., Yoshiura, K. I., ... Matsumoto, N. (2006). BAC array CGH reveals genomic aberrations in idiopathic mental retardation. American Journal of Medical Genetics, 140 A(3), 205-211. https://doi.org/10.1002/ajmg.a.31098

BAC array CGH reveals genomic aberrations in idiopathic mental retardation. / Miyake, Noriko; Shimokawa, Osamu; Harada, Naoki; Sosonkina, Nadia; Okubo, Aiko; Kawara, Hiroki; Okamoto, Nobuhiko; Kurosawa, Kenji; Kawame, Hiroshi; Iwakoshi, Mie; Kosho, Tomoki; Fukushima, Yoshimitsu; Makita, Yoshio; Yokoyama, Yuji; Yamagata, Takanori; Kato, Mitsuhiro; Hiraki, Yoko; Nomura, Masayo; Yoshiura, Ko Ichiro; Kishino, Tatsuya; Ohta, Tohru; Mizuguchi, Takeshi; Niikawa, Norio; Matsumoto, Naomichi.

In: American Journal of Medical Genetics, Vol. 140 A, No. 3, 01.02.2006, p. 205-211.

Research output: Contribution to journal › Article › peer-review

Miyake, N, Shimokawa, O, Harada, N, Sosonkina, N, Okubo, A, Kawara, H, Okamoto, N, Kurosawa, K, Kawame, H, Iwakoshi, M, Kosho, T, Fukushima, Y, Makita, Y, Yokoyama, Y, Yamagata, T, Kato, M, Hiraki, Y, Nomura, M, Yoshiura, KI, Kishino, T, Ohta, T, Mizuguchi, T, Niikawa, N & Matsumoto, N 2006, 'BAC array CGH reveals genomic aberrations in idiopathic mental retardation', American Journal of Medical Genetics, vol. 140 A, no. 3, pp. 205-211. https://doi.org/10.1002/ajmg.a.31098

Miyake, Noriko ; Shimokawa, Osamu ; Harada, Naoki ; Sosonkina, Nadia ; Okubo, Aiko ; Kawara, Hiroki ; Okamoto, Nobuhiko ; Kurosawa, Kenji ; Kawame, Hiroshi ; Iwakoshi, Mie ; Kosho, Tomoki ; Fukushima, Yoshimitsu ; Makita, Yoshio ; Yokoyama, Yuji ; Yamagata, Takanori ; Kato, Mitsuhiro ; Hiraki, Yoko ; Nomura, Masayo ; Yoshiura, Ko Ichiro ; Kishino, Tatsuya ; Ohta, Tohru ; Mizuguchi, Takeshi ; Niikawa, Norio ; Matsumoto, Naomichi. / BAC array CGH reveals genomic aberrations in idiopathic mental retardation. In: American Journal of Medical Genetics. 2006 ; Vol. 140 A, No. 3. pp. 205-211.

@article{f3ac609d28c44a6caa0e24af96a304a2,

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).",

keywords = "BAC array CGH, Chromosomal abnormality, FISH, Mental retardation",

author = "Noriko Miyake and Osamu Shimokawa and Naoki Harada and Nadia Sosonkina and Aiko Okubo and Hiroki Kawara and Nobuhiko Okamoto and Kenji Kurosawa and Hiroshi Kawame and Mie Iwakoshi and Tomoki Kosho and Yoshimitsu Fukushima and Yoshio Makita and Yuji Yokoyama and Takanori Yamagata and Mitsuhiro Kato and Yoko Hiraki and Masayo Nomura and Yoshiura, {Ko Ichiro} and Tatsuya Kishino and Tohru Ohta and Takeshi Mizuguchi and Norio Niikawa and Naomichi Matsumoto",

year = "2006",

month = feb,

day = "1",

doi = "10.1002/ajmg.a.31098",

language = "English",

volume = "140 A",

pages = "205--211",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

number = "3",

}

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

UR - http://www.scopus.com/inward/record.url?scp=31944447396&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=31944447396&partnerID=8YFLogxK

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 -

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this