12号染色体短臂嵌合型三体综合征
Trisomy 12p mosaicism syndrome.
作者信息
Karki C B, Walters R M
机构信息
Stoke Park Hospital, Stapleton, Bristol, England.
出版信息
J Ment Defic Res. 1990 Feb;34 ( Pt 1):75-80. doi: 10.1111/j.1365-2788.1990.tb01517.x.
Abstract
A case of trisomy 12p mosaicism originating de novo in a 21-year-old profoundly mentally handicapped female who presented with severe behaviour problems is described. The 12p syndrome has been confirmed by clinical, cytogenetic and biochemical studies. The findings are compared with those of other cases with trisomy 12p arising de novo.
摘要
本文描述了一例12号染色体短臂三体嵌合体病例，该病例为一名21岁的重度精神发育迟滞女性，表现出严重行为问题，其12号染色体短臂三体嵌合体为新发。通过临床、细胞遗传学和生化研究确诊为12号染色体短臂综合征。并将这些发现与其他新发12号染色体短臂三体的病例进行了比较。
Zotero 插件