延安地区349例遗传咨询者细胞遗传学分析

Cytogenetics analysis of 349 patients with genetic counselling in Yan′an area.

分析延安地区遗传咨询病例 349人的外周血染色体 ,发现异常核型 35例 ,占 10 .0 3% ,其中常染色体异常 2 4例、性染色体异常 11例。就诊原因以不良孕产史占多数 (6 1.32 % ) ,智能低下及发育异常次之 (2 4 0 7% )。在所发现的 35例异常核型中 ,以智能低下及发育异常所占的比例最高 (2 1 43 % ) ,性发育异常次之 (2 0 5 8% )。

Chromosomal analysis of peripheral blood lymphocytes were done in 349 patients from genetic counselling clinic,35 abnormal karyotypes were discovered among with 24 were autosomal and 11 sex chromosomal,with a total abnormal rate of 10.03%.As the causes for genetic counselling,abnormal pregnancy experience was the most frequent(61.32%),the next being mental retardation and developmental abnormalities(24.07%).The rate of abnormal karyotype was 21.43% in mental retardation and developmental abnormalities and 20.58% in sex developmental abnormalities.