Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

被引：37

作者：

Imaizumi, K

Kimura, J

Matsuo, M

Kurosawa, K

Masuno, M

Niikawa, N

Kuroki, Y

机构：

[1] Kanagawa Childrens Med Ctr, Div Med Genet, Minami Ku, Yokohama, Kanagawa 2328555, Japan

[2] Nagasaki Univ, Sch Med, Dept Human Genet, Nagasaki 852, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 107卷 / 01期

关键词：

Sotos syndrome; chromosome translocation; 5q35;

D O I：

10.1002/ajmg.10080

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35; q24.1)] in a 15-month-old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291-293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long-arm region of chromosome 5. (C) 2001 Wiley-Liss, Inc.

引用

页码：58 / 60

页数：3

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