Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23

被引：44

作者：

Kawara, H

Yamamoto, T

Harada, N

Yoshiura, K

Niikawa, N

Nishimura, A

Mizuguchi, T

Matsumoto, N

机构：

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

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

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

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

[5] Yokohama City Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 04期

关键词：

monosomy 9p syndrome; shortest region of overlap; trigonocephaly; mental retardation; brown hair;

D O I：

10.1002/ajmg.a.31094

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 2-year-old boy with clinical manifestations of monosomy 9p syndrome and brown hair is described. G-banding and chromosome FISH studies demonstrated complex rearrangemerits involving seven breakpoints in chromosomes 2 and 9, which included a 6.6-Mb deletion at gp22.2-p23. This, together with previous studies in the literature, narrowed the shortest region of overlap (SRO) for the syndrome to a 4.7-Mb interval. Candidate genes for trigonocephaly, mental retardation, and brown hair are discussed. (c) 2006 Wiley-Liss, Inc.

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页码：373 / 377

页数：5

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