摘要
分析遗传咨询病例1321人的外周血染色体,发现异常核型133例,占10.07%,其中常染色体异常80例,性染色体异常53例。就诊原因以妊娠胎儿丢失占多数(68.66%),智力低下及发育异常次之(13.1%),原发闭经又次之(9.16%)。在所发现的133例异常核型中以智力低下及发育异常所占的比例最高(38.15%),原发闭经次之(32.23%,如将核型为46,XY的16例计入,则异常率达45.45%)。
Chromosomal analyses of peripheral lymphocytes were done in 1321 patients from genetic counelling clinic; 133 abnormal karyotypes were discovered among which 80 were autosomal and 53 sex chromosomal, with a total abnormal rate of 10.07%. As the causes for genetic counselling, pregnancy wastage was the most frequent (68.66%), the next being mental retardation and developmental abnormalities (13.10%)and primary amenorrhea (9.16%).The rate of abnormal karyotype was 38.15% in mental retardation and developmental abnormalities and 32.23% in primary amenorrhea; the leatter would be as high as 45.45% provided 16 cases of 46, XY were included.
出处
《遗传与疾病》
CSCD
北大核心
1989年第2期90-93,126,共4页
关键词
染色体畸变
遗传
染色体
咨询
Abnormal karyotype Pregnancy wastage Primary amenorrhea Mental retardation Developmental abnormality
