（17）（p11.2）间质性缺失。一种微缺失综合征。另一个例子。
Interstitial deletion of (17)(p11.2). A microdeletion syndrome. Another example.
作者信息
de Almeida J C, Reis D F, Martins R R
机构信息
Unidade de Citogenética Médica do Instituto de Biofísica Carlos Chagas Filho (UFRJ), CCS Bloco G. Cidade Universitària Ilha do Fundáo, Rio de Janeiro, Brasil.
出版信息
Ann Genet. 1989;32(3):184-6.
PMID:2817780
Abstract
Another example of del (17)(p11.2) in a 3-year-old boy with psychomotor retardation, broad face, midface hypoplasia, prognathism, and behavioural anomalies was diagnosed clinically and confirmed by prometaphase analysis. It seems that this new microdeletion syndrome may not be so rare.
摘要
一名患有精神运动发育迟缓、宽脸、面中部发育不全、凸颌和行为异常的3岁男孩，经临床诊断为17号染色体（p11.2）缺失，并通过前中期分析得以证实。看来这种新的微缺失综合征可能并不那么罕见。
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