与6号环状染色体相关的智力发育迟缓及先天性畸形
Mental retardation and congenital malformations associated with a ring chromosome 6.
作者信息
Fried K, Rosenblatt M, Mundel G, Krikler R
出版信息
Clin Genet. 1975 Mar;7(3):192-6. doi: 10.1111/j.1399-0004.1975.tb00318.x.
Abstract
A boy, in whom a ring chromosome 6 was found, presented with mental retardation and odd facies. He had a small head, bilateral epicanthus, broad nasal bridge, low set prominent ears, short neck and clasped thumbs. The ring chromosome was identified by the ASG banding technique.
摘要
一名被发现有6号环状染色体的男孩表现出智力发育迟缓及面容怪异。他头小，双侧内眦赘皮，鼻梁宽，耳朵低位且突出，脖子短，拇指内收。环状染色体通过ASG显带技术得以识别。
Zotero 插件