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36岁妇女在孕10(1/2)周取绒毛标本25mg,仔细挑选绒毛后用直接法和培养法制备玻片。直接法有18个分裂相为46,XX,培养法有25个分裂相为46,XX。妊娠18周时母亲患病毒感染,二周后有阴道出血、胎动消失,超声检查证明胎死宫内,胎儿如16~18周大小。引产后尸检发现有正常的男性内、外生殖器。胎儿或胎盘组织未进行细胞遗传学检查。再次分析直接法的片子,28个分裂相为46,XX,培养法再次证实为46,XX。对以前的妊娠进行细胞遗传学分析,病人和她女儿在一个22号染色体上均有大随体,在绒毛标本中直接法和培养法的22号染色体上均有大随体,因同一天内没有其它病例发现这种多型性的标本,所以可完全排除病人标本混淆。对病人外周血及绒毛G带和C带进行标记染色体研究,1、9、16号染色体着丝点的异染
36-year-old women in pregnancy 10 (1/2) weeks to take the villus specimen 25mg, carefully selected after the preparation of fluff by direct method and culture slides. The direct method has 18 split phase 46, XX, culture method has 25 split phase 46, XX. Maternal infection at 18 weeks of gestation, vaginal bleeding after two weeks, fetal movement disappeared, ultrasound examination of fetal death, such as fetal size of 16 to 18 weeks. Post-abortion post-abortion found normal male, external genitalia. Fetal or placental tissue is not cytogenetically examined. Again analysis of the direct method of the film, 28 split phase 46, XX, culture method was again confirmed as 46, XX. Cytogenetic analysis of previous pregnancies showed that both the patient and her daughter had a large satellite on chromosome 22 and a large satellite on chromosome 22 both in direct and in culture in the villi, Other cases of this type of specimens found, so patients can be completely ruled out the confusion of specimens. Chromosome studies of G and C bands in peripheral blood and villi of patients, chromosomes 1, 9 and 16