一例通过染色体不平衡易位检测到的人类嵌合体病例。

A case of human chimerism detected by unbalanced chromosomal translocation.

作者信息

Nyberg R H, Haapala A K, Simola K O

机构信息

Department of Clinical Genetics, Tampere University Hospital, Finland.

出版信息

Clin Genet. 1992 Nov;42(5):257-9. doi: 10.1111/j.1399-0004.1992.tb03251.x.

DOI:10.1111/j.1399-0004.1992.tb03251.x

PMID:1344032

Abstract

Chimerism in humans is usually found only because of discrepancies in unique blood group typing or sex chromosome complements. We describe a case found because of an inherited chromosomal translocation. A female carrier of the balanced reciprocal translocation t(14;20)(q31;q13.3) had a twin pregnancy. After birth the B-twin, a girl, was found to have the balanced translocation. The A-twin, a severely malformed and stillborn boy, had two different karyotypes; a normal 46,XY and an unbalanced translocation derivative 46,XY,-14, +der(14)t(14;20)(q31;q13.3). He was a dispermic chimera, formed by two fertilized oocytes.

摘要

人类中的嵌合体通常仅因独特血型分型或性染色体组成的差异而被发现。我们描述了一例因遗传性染色体易位而发现的病例。一名平衡易位t(14;20)(q31;q13.3)的女性携带者怀了双胞胎。出生后，B双胞胎（一名女孩）被发现有平衡易位。A双胞胎是一名严重畸形且死产的男孩，有两种不同的核型：正常的46,XY和不平衡易位衍生核型46,XY,-14,+der(14)t(14;20)(q31;q13.3)。他是由两个受精卵形成的双精嵌合体。