摘要
本文对913例遗传咨询者外周血进行了临床和遗传学分析,共发现染色体异常病例116例,检出率为12.7％,其中常染色体异常为41.7％,性染色体异常为42.2％,染色体形态异常为12.9％,其它染色体异常为3.4％。在检查中发现流产、死胎、畸胎、新生儿死亡所占病例最多,达53.8％,其次为生殖器及性别发育异常,达19.9％。发现性反转综合症7例,并对其进行了SRY基因检测,明确其性别,为防治性别异常疾病,提供了病因学研究及临床诊断资料。
The peripheral blood cell of 913 genetic counsellors were analysed by clinic genetics. There were 116 cases with chromosome abnormalities, detectable rate was 12.7% . Among these cases, the proportion of autosomal abnormality, sex chromosome abnormality and morphological abnormality of chromosome was 41.2%, 42.2%, 12.9% respectively, else 3.4%, In our examination, abortions, dead births, congenital abnormalities and neonatal death had the highest proportions ( 53. 8%). The second high proportion was abnormalities of genitalia and sexual development(19.9% ). We also found that there were 7 sex - converse syndromes, and we examined their SRY gene in order to know about their genders. It may afford etiologic and clinic diagnoses for gender abnomal disease.
出处
《临床输血与检验》
CAS
1999年第1期30-32,共3页
Journal of Clinical Transfusion and Laboratory Medicine
