我院遗传室自1987年～1990年开展遗传检验对84例先天疾患病儿进行了细胞遗传学检查,现分析如下。1 对象和方法1.1 检查对象:前来儿科门诊就诊的13岁以内的患先天性疾患的病儿。临床症征有智能低下、发育迟缓、先心病、唇+腭裂、先天性聋哑、神经管畸形等。1.2 方法:采用RPMI1640培养基进行外周血淋巴细胞培养。G显带分析计数30个分裂相,必要时加做C显带。2 检查结果受检的84例中,发现染色体异常17例(见表),检出率为20.23％。其中数目异常13 Our hospital genetic room from 1987 to 1990 to carry out genetic testing 84 cases of congenital disease in children with cytogenetic examination, are analyzed as follows. 1 Subjects and methods 1.1 Checked objects: Pediatric outpatient visits within the age of 13 children suffering from congenital disorders. Clinical signs of mental retardation, stunting, congenital heart disease, lip + cleft palate, congenital deaf and dumb, such as neural tube defects. 1.2 Methods: RPMI1640 medium for peripheral blood lymphocyte culture. G banding analysis of 30 split phase, if necessary, add C banding. 2 test results 84 cases were detected, found in 17 cases of chromosomal abnormalities (see table), the detection rate was 20.23%. The number is abnormal 13