双平衡染色体易位携带者（6；8），（13；14）——病例报告

Double balanced chromosomal translocation carrier (6;8), (13;14)--a case report.

作者信息

Hansen R G, Anderson R L, Rary J M

出版信息

J Hered. 1983 Nov-Dec;74(6):450-2. doi: 10.1093/oxfordjournals.jhered.a109836.

DOI:10.1093/oxfordjournals.jhered.a109836

Abstract

This paper reports the identification of a carrier of two different balanced chromosomal translocations (45,XX,-13,-14, + t(13q;14q), t(6;8) (p11;p12]. Ascertainment occurred during family studies following prenatal diagnosis performed because of advanced maternal age. Family pedigree and past reproductive difficulties also are reviewed, and the theoretical probability of producing a phenotypically normal offspring is explored. We are unaware of previously published observations in which two different balanced autosomal translocations are found in the same individual.

摘要

本文报道了一名携带两种不同平衡染色体易位（45,XX,-13,-14, + t(13q;14q), t(6;8) (p11;p12]）的携带者的鉴定情况。确诊是在因产妇年龄较大而进行产前诊断后的家系研究过程中发生的。还回顾了家系图谱和既往生育困难情况，并探讨了生出表型正常后代的理论概率。我们未发现之前有在同一个体中发现两种不同平衡常染色体易位的报道。