单卵双胞胎中的双三体（48,XXY,+21）：病例报告及文献复习

Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature.

作者信息

Iliopoulos Dimitrios, Poultsides George, Peristeri Vasiliki, Kouri Georgia, Andreou Alexandros, Voyiatzis Nikolaos

机构信息

Laboratory of Cytogenetics, 2nd Department of Pediatrics, A.H.E.P.A. Hospital, School of Medicine, Aristotelian University of Thessaloniki, Thessaloniki, Greece.

出版信息

Ann Genet. 2004 Jan-Mar;47(1):95-8. doi: 10.1016/j.anngen.2003.08.025.

DOI:10.1016/j.anngen.2003.08.025

PMID:15050879

Abstract

The occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. We describe twin newborns with typical clinical features of Down's syndrome, of which one revealed 48,XXY,+21 GTG-band karyotype. The second newborn died 2 days after its birth, and was clinically diagnosed having Down syndrome. Due to the same clinical features of the twins, the common placenta and amniotic sac, we speculate that they were monozygotics and as a result the second newborn should also be a Klinefelter. The purpose of this report is to present a rare case of possible coincidence of double aneuploidy in newborn twins. A review of the literature showed that double trisomy (48,XXY,+21) in a twin newborn infant has never occurred.

摘要

同一个体出现双三体是一种相对罕见的现象。我们描述了一对具有典型唐氏综合征临床特征的双胞胎新生儿，其中一个显示为48,XXY,+21 GTG带核型。第二个新生儿出生后2天死亡，临床诊断为唐氏综合征。由于这对双胞胎具有相同的临床特征、共用胎盘和羊膜囊，我们推测他们是单卵双胞胎，因此第二个新生儿也应该是克兰费尔特综合征患者。本报告的目的是呈现一例新生儿双胞胎中可能出现双三体巧合的罕见病例。文献回顾显示，双胞胎新生儿中从未出现过双三体（48,XXY,+21）的情况。