由于母亲的t(10;14)(p15;q13)易位导致10号染色体短臂1区5带至短臂末端以及14号染色体短臂末端至长臂3区出现三次三体。

Tertiary trisomy of 10p15.pter and 14pter.ql3 due to maternal translocation t(10;14)(p15;q13).

作者信息

Cetin Z, Mihci E, Keser I, Luleci G

机构信息

Department of Medical Biology, School of Medicine, Akdeniz University, Antalya, Turkey.

出版信息

Genet Couns. 2012;23(2):207-14.

PMID:22876579

Abstract

Double partial trisomy resulting from 3:1 segregation of the respective chromosomal segments of the chromosomes involved in a balanced translocation in meiosis is rarely reported in the literature. We present here a first patient with multiple congenital malformations associated with double partial trisomy of 10pter-p15 and 14pter-q13 resulting from 3:1 segregation of maternal balanced translocation t(10;14)(p15;q13). Proximal partial trisomy of chromosome 14 and subterminal trisomy of the short arm of the chromosome 10 are rare. The present case is the first case with double partial trisomy of these segments resulting from 3:1 segregation of a maternal balanced translocation.

摘要

减数分裂中平衡易位所涉及染色体各自染色体片段以3:1分离导致的双部分三体在文献中鲜有报道。我们在此报告首例患有多种先天性畸形的患者，其与10pter-p15和14pter-q13双部分三体相关，该双部分三体由母亲平衡易位t(10;14)(p15;q13)的3:1分离所致。14号染色体近端部分三体和10号染色体短臂亚末端三体较为罕见。本病例是首例因母亲平衡易位的3:1分离导致这些片段双部分三体的病例。