染色体10q24.31片段重复导致先天性缺指/缺趾畸形的一个家系致病机理分析

张秀泉,王建,熊符,吕伟标,周远青,杨少民,张玉婷,田小燕,连蔚,徐湘民

Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis

Zhang Xiuquan,Wang Jian,Xiong Fu,Lv Weibiao,Zhou Yuanqing,Yang Shaomin,Zhang Yuting,Tian Xiaoyan,Lian Wei,Xu Xiangmin

图4 先证者兄弟及其父母5个位点单倍型分析结果 先证者(箭头指向)母系遗传位点为251-102-289-219-165,其弟弟母系遗传位点为251-107-289-219-165,他们的父系遗传位点均为: 251-109-291-219-167。

Fig. 4 Results of the gene haplotype analysis on 5 loci