46,XX/46,XX，20号染色体缺失（pter→p12.2）的嵌合体，仅限于与中脑导水管狭窄/智力低下及严重生长发育迟缓相关的成纤维细胞。
46,XX/46,XX,del(20)(pter-->p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit.
作者信息
Fryns J P, Kleczkowska A, Decock P, Massa G, van den Berghe H
机构信息
Centre for Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium.
出版信息
Ann Genet. 1992;35(4):234-6.
PMID:1296522
Abstract
In this report the authors describe an 8-year-old severely mentally retarded girl with facial features resembling the facial dysmorphism seen in patients with Alagille-Watson syndrome, severe growth retardation and a 46,XX/46,XX,del(20)(pter-->p12.2) mosaicism in fibroblasts.
摘要
在本报告中，作者描述了一名8岁的重度智力发育迟缓女孩，其面部特征类似于阿拉吉耶-沃森综合征患者所表现出的面部畸形，伴有严重生长发育迟缓，且在成纤维细胞中存在46,XX/46,XX,del(20)(pter→p12.2)嵌合体。
Zotero 插件