双易位：一段有趣的家族病史。

Double translocation: an interesting family history.

作者信息

Uysal A, Uludağ A, Sılan F, Erçelen N, Zafer C, Ozdemir O

机构信息

Department of Obstetrics and Gynecology, Çanakkale Onsekiz Mart University, Çanakkale, Turkey.

出版信息

Balkan J Med Genet. 2013 Jun;16(1):77-80. doi: 10.2478/bjmg-2013-0022.

DOI:10.2478/bjmg-2013-0022

PMID:24265590

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3835301/

Abstract

Double balanced translocations are particularly rare and the risk of a fetus with an unbalanced chromosomal anomaly is greater than for single translocation carriers. In this present case, we describe an interesting family history which included three generations. A couple, married for 4 years, was referred to the genetic clinic due to infertility and family chromosome anomalies. A GTG-band chromosome analysis indicated that the male partner's karyotype was 45,XY, t(3;18)(q11;ptel)t(13;14)(q10;q10). The same double balanced translocation was found in two others family members.

摘要

双平衡易位极为罕见，胎儿出现染色体不平衡异常的风险高于单易位携带者。在本病例中，我们描述了一个有趣的三代家族史。一对结婚4年的夫妇因不孕和家族染色体异常被转诊至遗传门诊。GTG带染色体分析表明，男性伴侣的核型为45,XY,t(3;18)(q11;ptel)t(13;14)(q10;q10)。另外两名家族成员也发现了相同的双平衡易位。