三例表型异常个体中1号染色体短臂臂间倒位的非相关病例。

Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.

作者信息

Estop A M, Bansal V, Lin A, Levinson F, Karlin S M, Surti U, Wenger S L, Steele M W

机构信息

Department of Medical Genetics, Western Pennsylvania Hospital 15224.

出版信息

Am J Med Genet. 1994 Feb 15;49(4):410-3. doi: 10.1002/ajmg.1320490412.

DOI:10.1002/ajmg.1320490412

PMID:8160735

Abstract

Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.

摘要

臂内倒位涉及一条染色体臂内的重排，较为罕见。理论上，平衡臂内倒位携带者生育异常后代的风险应该较低，但此类病例已有报道。我们报告了2例无关个体的1号染色体臂内倒位遗传病例，其断点分别位于p32和p36.1以及p32.3和p36.22，这些个体具有异常表型。此外，还介绍了另一例2异常单卵双胞胎病例，其1号染色体发生新生臂内倒位，断点位于p22和p34。