两对患维德曼-贝克威思综合征的男性同卵双胞胎，其中一对患病，另一对未患病。

Two pairs of male monozygotic twins discordant for Wiedemann-Beckwith syndrome.

作者信息

Leonard N J, Bernier F P, Rudd N, Machin G A, Bamforth F, Bamforth S, Grundy P, Johnson C

机构信息

Department of Genetics, University of Calgary.

出版信息

Am J Med Genet. 1996 Jan 22;61(3):253-7. doi: 10.1002/(SICI)1096-8628(19960122)61:3<253::AID-AJMG9>3.0.CO;2-V.

DOI:10.1002/(SICI)1096-8628(19960122)61:3<253::AID-AJMG9>3.0.CO;2-V

PMID:8741870

Abstract

Wiedemann-Beckwith syndrome (WBS) is a congenital anomaly syndrome which classically consists of exomphalos, macroglossia, and gigantism. The syndrome is also associated with a variety of minor anomalies and affected individuals have an increased risk of developing rare embryonal cell tumors. To date, 15 monozygotic (MZ) twin pairs have been reported of which 13 are discordant for WBS. All except one pair of the discordant WBS twin pairs have been female. We report two pairs of male MZ twins, each discordant for WBS.

摘要

威德曼-贝克威思综合征（WBS）是一种先天性异常综合征，典型表现为脐膨出、巨舌症和巨人症。该综合征还与多种轻微异常有关，患病个体患罕见胚胎细胞瘤的风险增加。迄今为止，已报道了15对单卵（MZ）双胞胎，其中13对双胞胎中一方患有WBS。除了一对双胞胎外，所有患WBS的不一致双胞胎均为女性。我们报告了两对男性MZ双胞胎，每对双胞胎中一方患有WBS。