一名47,XXX患儿的泄殖腔外翻：XXX综合征患者泌尿生殖系统畸形综述

Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients.

作者信息

Lin H J, Ndiforchu F, Patell S

机构信息

Department of Pediatrics, Harbor-UCLA Medical Center, Torrance 90502.

出版信息

Am J Med Genet. 1993 Mar 15;45(6):761-3. doi: 10.1002/ajmg.1320450619.

DOI:10.1002/ajmg.1320450619

PMID:8456857

Abstract

Cloacal exstrophy, unilateral renal agenesis, and Müllerian anomalies occurred in a liveborn infant with a 47,XXX chromosome constitution. The patient extends the range of genitourinary anomalies reported in triple-X patients. Screening asymptomatic patients for urinary tract abnormalities may be useful in searching for silent malformations potentially associated with this karyotype.

摘要

一名染色体组成为47,XXX的活产婴儿出现泄殖腔外翻、单侧肾缺如和苗勒氏管异常。该患者扩展了XXX综合征患者中所报道的泌尿生殖系统异常的范围。对无症状患者进行泌尿系统异常筛查，可能有助于发现与这种核型潜在相关的隐匿畸形。