从1985年9月1日至1987年10月31日,共检查外周血淋巴细胞、羊水细胞及早孕绒毛细胞G带染色体936人,发现异常核型107例,其中7例属世界首报。7例中,2例为染色体部分缺失,表现为智力低下及语言障碍;4例为相互平衡易位,表现为不良妊娠史或智力低下;1例为X,O/psu dic(X)嵌合体,表现为原发闭经。 From September 1, 1985 to October 31, 1987, a total of 936 G-banding chromosomes were detected in peripheral blood lymphocytes, amniotic fluid cells and early gestational villi cells. 107 abnormal karyotypes were found, of which 7 were the first in the world. In the 7 cases, 2 cases were chromosomal partial deletion, showing mental retardation and language disturbance; 4 cases were balanced translocations with poor pregnancy history or mental retardation; 1 case was X, O / psu dic (X) , Manifested as primary amenorrhea.