BAC array CGH reveals genomic aberrations in idiopathic mental retardation

被引：54

作者：

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

Kishino, T

Ohta, T

Mizuguchi, T

Niikawa, N

Matsumoto, N

机构：

[1] Nagasaki Univ, Grad Sch Biomed Sci, Dept Human Genet, Nagasaki 852, Japan

[2] Nagasaki Univ, Grad Sch Biomed Sci, Dept Pediat, Nagasaki 852, Japan

[3] Japan Sci & Technol Agcy, CREST, Kawaguchi, Japan

[4] Kyushu Med Sci Nagasaki Lab, Nagasaki, Japan

[5] Osaka Med Ctr, Dept Planning & Res, Osaka, Japan

[6] Res Inst Maternal & Child Hlth, Izumi, Japan

[7] Kanagawa Childrens Med Ctr, Div Med Genet, Yokohama, Kanagawa, Japan

[8] Nagano Childrens Hosp, Div Med Genet, Nagano, Japan

[9] Nishinomiya Municipal Wakaba En, Nishinomiya, Hyogo, Japan

[10] Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 390, Japan

[11] Asahikawa Med Coll, Dept Pediat, Asahikawa, Hokkaido 078, Japan

[12] Okayama Univ, Sch Med, Fac Med, Dept Pediat, Okayama 700, Japan

[13] Jichi Med Sch, Dept Pediat, Minami Kawachi, Tochigi, Japan

[14] Yomagata Univ, Sch Med, Dept Pediat, Yamagata, Japan

[15] Hiroshima Municipal Ctr Child Hlth & Dev, Hiroshima, Japan

[16] Nagasaki Univ, Ctr Frontier Life Sci, Div Funct Genom, Nagasaki 852, Japan

[17] Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Ishikari, Hokkaido 06102, Japan

[18] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 232, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 03期

关键词：

mental retardation; BAC array CGH; FISH; chromosomal abnormality;

D O I：

10.1002/ajmg.a.31098

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Array using 2,173 BAC clones covering the whole human genome has been constructecl. All clones spottecl 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 (CPN's). (c) 2006 Wiley-Liss, Inc.

引用

页码：205 / 211

页数：7

共 21 条

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