中国现代医学杂志2003，Vol.13Issue(18)：78-80,3.
性发育异常患儿染色体分析及SRY基因的检测
A STUDY OF CHROMOSOME AND DETECTION OF SRY GENE IN THE SEXUAL ABNORMAL CHILDREN
叶志纯 1赵蕊 1祝兴元1
作者信息
- 1. 湖南省儿童医院儿科学研究所,410007
- 折叠
摘要
Abstract
Objective:To discuss the relationship between sexual abnormality and chromosome and SRY gene.Methods:108 cases of sexual abnormal children were detected by chromosome G-banding and PCR method.Results:There were 5 sexual chromosome aberrations and 13 cases with chromosome heteromorphsim in 108 cases of sexual abnormality. 2 boys of 46,XY,the SRY gene was absent,2 girls of 46,XY ,the SRY gene was postive, 4 boys of 46,XX the SRY gene was negative.Conclusions:It is one of the critical reasons for the chromosome aberrations resulting in the sexual developmental abnormality;The SRY gene is not the only gene in determination of sex, the absence or mutation of SRY gene may be related with various sexual abnormality. It is very important to detect chromosomes and SRY gene for diagnosis of sexual abnormal children.关键词
性发育异常 染色体畸变 SRY基因Key words
Sexual Abnormality/Chromosome Aberrations/SRY Gene分类
医药卫生引用本文复制引用
叶志纯,赵蕊,祝兴元..性发育异常患儿染色体分析及SRY基因的检测[J].中国现代医学杂志,2003,13(18):78-80,3.
