家族性易位t(10;21)(q22;q22)。
Familial translocation t(10;21)(q22;q22).
作者信息
Delicado A, Pajares I L, Vicente P, Hawkins F
出版信息
Hum Genet. 1979 Sep;50(3):253-8. doi: 10.1007/BF00399390.
PMID:489009
Abstract
A family is described with a translocation t(10;21)(q22;q22) transmitted through three generations. This family was studied for the apparition of several miscarriages and two sisters with multiple malformations. Both children had a probably partial trisomy of chromosome 10 and a monosomy of chromosome 21 due to a maternal adjacent-2 meiotic segregation.
摘要
本文描述了一个通过三代遗传的t(10;21)(q22;q22)易位家系。对该家系中出现的多次流产情况以及两名患有多种畸形的姐妹进行了研究。由于母亲的减数分裂相邻-2分离，两个孩子可能存在10号染色体部分三体和21号染色体单体。
Zotero 插件