一名患有3q部分三体综合征的女孩出现多种先天性畸形，包括严重的眼部异常以及伴有Dandy-Walker畸形的小脑发育异常。

Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q.

作者信息

de Azevedo Moreira Lília Maria, Neri Fátima Bittencourt, de Quadros Uzeda Sheila, de Carvalho Acácia Fernandes Lacerda, Santana Gustavo Costa, Souza Fabiana Rocha, Rollemberg José Cortes

机构信息

Human Genetics and Cytogenetics Laboratory, Biology Institute, Federal Univesity of Bahia (UFBA)-Campus Universitário de Ondina, Salvador, Bahia, Brazil.

出版信息

Ophthalmic Genet. 2005 Mar;26(1):37-43. doi: 10.1080/13816810590927217.

DOI:10.1080/13816810590927217

PMID:15823924

Abstract

PURPOSE

Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations.

METHODS

Clinical examination and chromosomal analysis were conducted.

RESULTS

The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation.

CONCLUSIONS

This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.

摘要

目的

眼部异常与多种染色体异常有关。本报告描述了一名两个月大女孩的3q部分三体，其具有Dup3q表型的畸形特征以及严重的眼部和小脑畸形。

方法

进行了临床检查和染色体分析。

结果

先证者的核型为46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter)。她有头部形状异常、低位畸形耳、面容粗糙、短蹼颈、足部位置异常、多囊肾和脊柱裂。还存在双侧小眼症，右侧更严重，小角膜和角膜混浊。她有后颅窝异常，包括提示丹迪-沃克（DW）畸形的小脑蚓部发育不全。