A large interstitial deletion of 17p13.1p11.2 involving the Smith-Magenis chromosome region in a girl with multiple congenital anomalies

被引：12

作者：

Yamamoto, T

Ueda, H

Kawataki, M

Yamanaka, M

Asou, T

Kondoh, Y

Harada, N

Matsumoto, N

Kurosawa, K

机构：

[1] Kanagawa Childrens Med Ctr, Dept Med Genet, Yokohama, Kanagawa, Japan

[2] Kanagawa Childrens Med Ctr, Dept Cardiol, Yokohama, Kanagawa, Japan

[3] Kanagawa Childrens Med Ctr, Dept Neonatol, Yokohama, Kanagawa, Japan

[4] Kanagawa Childrens Med Ctr, Dept Obstet, Yokohama, Kanagawa, Japan

[5] Kanagawa Childrens Med Ctr, Dept Cardiovasc Surg, Yokohama, Kanagawa, Japan

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

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

[8] JST, CREST, Kawaguchi, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 01期

关键词：

17p11.2; Smith-Magenis syndrome; large interstitial deletion; dysplastic kidney; cyanotic congenital heart disease; fluorescence in situ hybridization (FISH);

D O I：

10.1002/ajmg.a.31055

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 6-month-old girl had multiple congenital anomalies, including dysmorphic face; tetralogy of Fallot, pulmonary atresia and patent ductus arteriosus; congenital cystic adenomatoid malformation of the right upper lung, and hemilateral kidney defect. Chromosome analysis as well as flurorescence in situ hybridization (FISH) and polymorphic marker analyses in the girl and her parents revealed a de novo large interstitial deletion of 17p13-1-p11.2 of the paternally derived chromosome 17. The deletion involved the Smith-Magenis chromosome region (SMCR). Lack of involvement of the Miller-Dieker syndrome region at 17p13.3 was confirmed by both FISH analysis and radiological examinations that showed no migrational abnormality. The girl died at age 7 months. This is the first report of a patient with a large interstitial deletion of 17p. (c) 2005 Wiley-Liss, Inc.

引用

页码：88 / 91

页数：4

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