一名患有先天性肺部病变和胎儿水肿的胎儿的1q部分三体和X单体的产前诊断。

Prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops fetalis.

作者信息

Pressey Tracy L, Wilson R Douglas, Kasperski Stefanie, Bebbington Michael W, Adzick N Scott

机构信息

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of British Columbia, Vancouver, Canada.

出版信息

Am J Med Genet A. 2007 May 15;143A(10):1104-7. doi: 10.1002/ajmg.a.31707.

DOI:10.1002/ajmg.a.31707

PMID:17431907

Abstract

We report on the prenatal diagnosis of partial trisomy 1q and monosomy X in a fetus with a congenital lung lesion and hydrops. The finding of hydrops in a fetus with a small lung lesion, congenital cystic adenomatoid malformation (CCAM) volume to head circumference ratio (CVR) 0.78, prompted cytogenetic analysis of amniotic fluid, revealing an unbalanced translocation between chromosomes X and 1 [46,X,der(X)t(X;1)(p11.2;q25 or q31)]. The incidence of chromosomal abnormalities with CCAM lesions is estimated at 1.6%. This is the first reported case of prenatally diagnosed partial trisomy 1q and monosomy X presenting as a fetal lung lesion and hydrops.

摘要

我们报告了一例患有先天性肺部病变和水肿的胎儿，其产前诊断为1q部分三体和X单体。在一名患有小肺部病变、先天性囊性腺瘤样畸形（CCAM）体积与头围比（CVR）为0.78的胎儿中发现水肿，促使对羊水进行细胞遗传学分析，结果显示X染色体和1号染色体之间存在不平衡易位[46,X,der(X)t(X;1)(p11.2;q25或q31)]。CCAM病变合并染色体异常的发生率估计为1.6%。这是首例报告的产前诊断为1q部分三体和X单体且表现为胎儿肺部病变和水肿的病例。