伊藤色素减退症与7号染色体三体的嵌合体及羊膜穿刺术时明显的“假嵌合体”相关。
Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis.
作者信息
Jenkins D, Martin K, Young I D
机构信息
Interdisciplinary Centre for Medical Genetics, City Hospital, Nottingham, UK.
出版信息
J Med Genet. 1993 Sep;30(9):783-4. doi: 10.1136/jmg.30.9.783.
Abstract
We describe a patient with hypomelanosis of Ito (HI) and typical characteristics. Cytogenetic analysis of fibroblast cultures showed mosaicism for trisomy 7. The trisomy cell line was first observed in an amniotic fluid culture and illustrates the problem of distinguishing pseudomosaicism from true mosaicism.
摘要
我们描述了一名具有伊藤色素减退症（HI）及典型特征的患者。对成纤维细胞培养物进行的细胞遗传学分析显示存在7号染色体三体的嵌合体。三体细胞系最初在羊水培养物中被观察到，这说明了区分假嵌合体和真正嵌合体的问题。
Zotero 插件