摘要
发现一个连续遗传5代的手指屈曲畸形大家系,共计48人,家系中五代22人有手指屈曲畸形,男患者11人,女患者11人。患者表型复杂轻重不一,但双手均对称屈曲畸形,对家系成员的生活环境、饮食习惯、婚育史、细胞遗传学等进行调查,确定该病为遗传性手指屈曲畸形。
A continuous 5-generation genetic finger flexion deformity pedigree was found.Among the total of 48 people in this family,there are 22 individuals with finger flexion deformity,11 males and 11 females.Phenotypes of the patients are complex and different,but the hands are symmetrical flexion deformity.Based on the investigation of their living environment,eating habits,obstetrical history,and cytogenetic analysis,we finally come to the conclusion that the disease is genetic finger flexion deformity.
出处
《中国优生与遗传杂志》
2012年第10期101-102,共2页
Chinese Journal of Birth Health & Heredity
关键词
先天性
手指屈曲
畸形
家系调查
Congenital
Finger flexion
Deformity
Pedigree
