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江西省妇女保健院细胞遗传室自建立以来,做了大量的工作,从1981年5月到19848月开设遗传咨询专科门诊,共遗传咨询病人2690人次。对其中疑有染色体异常的908例进行了染色体检查,他们使用外周血细胞和羊水细胞培养、染色体快速制片及显带、绒毛细胞培养等9项新技术。通过大量细致的工作,发现异常染色体84例,检出率为9.25%;变异染色体60例,检出率为5.51%。异常染色体检出率以原发性闭经患者为最高,其次为先天性外生殖器畸形患者,再次为新生儿畸形;染色体变异检出率
Since the establishment of the cytogenetic room of Jiangxi Provincial Women’s Health Care Center, a great deal of work has been done. From May 1981 to January 19848, there were 269 specialist clinics for genetic counseling. Chromosome examination was performed on 908 cases suspected of chromosomal abnormalities. They used 9 new technologies, such as peripheral blood cells and amniotic fluid cell culture, rapid chromosome production and banding, and villus cell culture. Through a large number of meticulous work, found 84 cases of abnormal chromosomes, the detection rate was 9.25%; mutation chromosome 60 cases, the detection rate was 5.51%. Abnormal chromosome detection rate of patients with primary amenorrhea was the highest, followed by patients with congenital external genital malformations, once again neonatal malformations; chromosome mutation detection rate