歌舞伎综合征：一名2岁罗马尼亚男孩的病例描述及文献综述。
Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature.
作者信息
Ioan D M, Fryns J P
机构信息
Department of Human Genetics, Institute of Endocrinology, Bucharest, Roumania.
出版信息
Genet Couns. 2007;18(1):113-7.
PMID:17515307
Abstract
We report on a 2-year-old boy presenting the cardinal features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotype was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rubinstein Tayby) were normal.
摘要
我们报告了一名2岁男孩，其具有歌舞伎综合征的主要特征，即特殊面容、身材矮小、中度智力发育迟缓、手指垫、脚趾垫和阴囊垂挂。核型为46，XY。针对22q11和16q（鲁宾斯坦-泰比综合征）微缺失的荧光原位杂交检测结果正常。
Zotero 插件