6号染色体长臂近端缺失：一份临床报告及文献综述

Deletion of proximal 6q: a clinical report and review of the literature.

作者信息

Yamamoto Y, Okamoto N, Shiraishi H, Yanagisawa M, Kamoshita S

出版信息

Am J Med Genet. 1986 Nov;25(3):467-71. doi: 10.1002/ajmg.1320250308.

DOI:10.1002/ajmg.1320250308

Abstract

We report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter----q13::q15----qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, valgus heels with flat feet, and congenital heart defect seem to form part of a specific del 6q syndrome.

摘要

我们报告了一名13岁男孩，其6号染色体长臂存在间质性缺失[46,XY,del(6)(pter----q13::q15----qter)]。面部不对称的特征性面容、脊柱异常、扁平足伴足跟外翻以及先天性心脏缺陷似乎构成了一种特定的6q缺失综合征的一部分。