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

表1 荧光探针标记物位点

Table 1 Marker sites for gene probes used in this study

名称 位点 片段大小(bp) D10S1709 Chr.10:99485372~99485535 164 D10S192 Chr.10:102436227~102436461 235 D10S597 Chr.10:11123.789~111231008 220 D10S1693 Chr.10:119444906~119445144 239 D10S587 Chr.10:125188605~125188780 176