一名患有9号染色体短臂三体和10号染色体短臂三体的胎儿，其源于母亲复杂染色体重排t(4;10;9)的不平衡分离。

A fetus with trisomy 9p and trisomy 10p originating from unbalanced segregation of a maternal complex chromosome rearrangement t(4;10;9).

作者信息

Hengstschläger Markus, Bettelheim Dieter, Repa Christa, Lang Susanna, Deutinger Josef, Bernaschek Gerhard

机构信息

Obstetrics and Gynecology, Prenatal Diagnosis and Therapy, University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.

出版信息

Fetal Diagn Ther. 2002 Jul-Aug;17(4):243-6. doi: 10.1159/000063401.

DOI:10.1159/000063401

PMID:12065954

Abstract

Complex chromosome rearrangements are only rarely seen in constitutional karyotypes. A case of prenatally detected trisomy 9p with trisomy 10p originating from adjacent segregation of a maternal complex chromosome rearrangement is reported. Ultrasound examination at 18 weeks of gestation showed cleft lip palate, club feet, structural anomalies of the cerebellum and cystic kidneys. Cytogenetic analysis of amnion cells revealed a female fetus with 47,XX,+der(9). FISH analyses together with parental karyotyping demonstrated the fetal additional chromosome to originate from malsegregation of a maternal complex chromosomal rearrangement. The mother is carrier of a balanced translocation t(4;10;9) (q12; p11;q13). Postmortem examination of the fetus showed nose anomalies, cleft lip palate, low set ears, club feet, lung anomalies, cystic kidney and aplasia of the uterus. Reporting of such rare cases is important in order to enable this information to be used for genetic counselling in similar situations.

摘要

复杂染色体重排在正常核型中极为罕见。本文报道了一例产前检测出的9号染色体短臂三体合并10号染色体短臂三体病例，其源于母体复杂染色体重排的相邻分离。妊娠18周时的超声检查显示胎儿存在唇腭裂、马蹄内翻足、小脑结构异常和多囊肾。羊膜细胞的细胞遗传学分析显示为一名47,XX,+der(9)的女性胎儿。荧光原位杂交（FISH）分析及父母核型分析表明，胎儿额外的染色体源自母体复杂染色体重排的错误分离。母亲是平衡易位t(4;10;9) (q12; p11;q13)的携带者。胎儿尸检显示存在鼻异常、唇腭裂、低位耳、马蹄内翻足、肺部异常、多囊肾和子宫发育不全。报告此类罕见病例对于使这些信息能够用于类似情况下的遗传咨询非常重要。