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对临床疑有染色体异常的1056例患者进行了染色体检查,发现染色体异常核型67例,异常检出率为6.34%。常染色体异常49例,性染色体异常18例,异常染色体涉及1,2,3,5,7,13,15,19,21,22,X 及 Y 等。染色体异常患者中以先天性智力低下最多,检出46例,发育异常次之,检出14例,妊娠胎儿丢失4例,其它疾病3例。并对检查结果进行了分析,结果提示染色体检查对先天性智力低下、发育异常、妊娠胎儿丢失等疾病的病因诊断有重要意义。
Chromosome examination was performed on 1056 patients with clinically suspected chromosomal abnormalities. Chromosome abnormalities were found in 67 cases, with an abnormal detection rate of 6.34%. 49 cases of autosomal abnormalities, 18 cases of sex chromosome abnormalities, abnormal chromosomes involving 1,2,3,5,7,13,15,19,21,22, X and Y and so on. Chromosomal abnormalities in patients with congenital mental retardation, 46 cases were detected, followed by abnormal development, 14 cases were detected, 4 cases of fetal loss of pregnancy, other diseases in 3 cases. And the examination results were analyzed, the results suggest that chromosomal examination of congenital mental retardation, dysplasia, fetal loss of pregnancy and other etiological diagnosis of disease is of great significance.