患Wiedemann-Beckwith综合征的单卵双胞胎中未检测到染色体和分子异常。

Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann-Beckwith syndrome.

作者信息

Litz C E, Taylor K A, Qiu J S, Pescovitz O H, de Martinville B

机构信息

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis.

出版信息

Am J Med Genet. 1988 Jul;30(3):821-33. doi: 10.1002/ajmg.1320300316.

DOI:10.1002/ajmg.1320300316

PMID:3189402

Abstract

Monozygotic twins discordant for the Wiedemann-Beckwith syndrome (WBS) were studied by cytogenetic and molecular methods to determine if a genetic lesion could be detected in the affected child. Probes known to be localized on the short arm of chromosome 11 and a low copy-repetitive probe were used. No genetic lesions could be ascertained in normal or affected tissue obtained from the WBS twin.

摘要

通过细胞遗传学和分子方法对患Wiedemann-Beckwith综合征（WBS）的单卵双胞胎进行研究，以确定能否在患病儿童中检测到基因损伤。使用了已知定位于11号染色体短臂的探针和一个低拷贝重复探针。在从患WBS的双胞胎获取的正常或患病组织中均未确定基因损伤。