采用高分辨率染色体显带技术分析的8号染色体家族性臂间倒位。

A familial pericentric inversion of chromosome 8 analysed with a high resolution chromosome banding technique.

作者信息

Bui T H, Sichong Z, Castro I

出版信息

Clin Genet. 1982 Apr;21(4):266-71. doi: 10.1111/j.1399-0004.1982.tb00761.x.

DOI:10.1111/j.1399-0004.1982.tb00761.x

Abstract

A familial pericentric inversion of chromosome 8 is described. The break points were localized by a high resolution chromosome banding technique and found to be inv(8)(p23.108q12.100). None of the family members had an unbalanced product of the inversion. There were no phenotypical abnormalities in the carriers. The break points and segregation pattern are compared with those of previously reported pericentric inversion of chromosome 8.

摘要

本文描述了一例家族性8号染色体臂间倒位。通过高分辨率染色体显带技术确定了断点，发现为inv(8)(p23.108q12.100)。家族成员中无一例具有不平衡的倒位产物。携带者无表型异常。将该病例的断点和分离模式与先前报道的8号染色体臂间倒位进行了比较。