一例产后诊断的 12 号染色体三体嵌合体的新临床发现。

Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.

机构信息

Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

出版信息

Am J Med Genet A. 2012 Jun;158A(6):1452-4. doi: 10.1002/ajmg.a.35354. Epub 2012 May 14.

DOI:10.1002/ajmg.a.35354

Abstract

We report on a girl with trisomy 12 mosaicism diagnosed postnatally. She has been followed from 4 months of age for developmental delay, unilateral sensorineural hearing loss, intestinal malrotation, hemi-hyperplasia, pigmentary dysplasia, retinopathy, and a vascular ring. To our knowledge, there have been no reports of complete trisomy 12 in the literature. However there have been a few reports describing the phenotype of individuals with trisomy 12 mosaicism. This case report is a description of the eighth liveborn individual diagnosed postnatally with this condition.

摘要

我们报告了一例产后诊断为 12 号染色体三体嵌合体的女孩。她从 4 个月大开始因发育迟缓、单侧感觉神经性听力损失、肠旋转不良、半增生、色素发育不良、视网膜病变和血管环而接受随访。据我们所知，文献中尚无完全 12 号染色体三体的报道。然而，有一些报道描述了 12 号染色体三体嵌合体个体的表型。本病例报告描述了第八例产后诊断为该疾病的个体。