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采用常规染色体制片和G 分带技术对20例(对)习惯性流产、早产、死产和分娩畸形儿的夫妇进行细胞遗传学检查,其中四例具有染色体异常。例一,夫妇年龄30岁以下,染色体均正常,生一先天愚型女孩,核型为(47,xx,+21)。例二,妻子和妻母均为罗伯逊21/22易位携带者,核型为[45,xx,-21,-22,+t(21q 22q)]/46,xx。例三,丈夫有D 组染色体断裂,生一男性死婴,患先天鱼鳞癣症,具有一条似C 组近中着丝点异常染色体。例四,妻子连续三次早死产,部分细胞具有一条C 组染色体长臂有增加的异常染色体。上述检查结果说明:在遗传咨询中,对有流产、早死产史的夫妇进行染色体检查是必要的。
Twenty cases (pairs) of habitual miscarriage, premature birth, stillbirth and delivery of malformed children were studied by cytogenetics using conventional chromosome preparation and G-banding techniques, of which four had chromosomal abnormalities. Example 1, the couple under the age of 30, the chromosomes were normal, a birth-Goddess girl, karyotype (47, xx, +21). Case 2: The wife and wife were all Robertson 21/22 translocators with a karyotype of [45, xx, -21, -22, + t (21q 22q)] / 46, xx. Case three, the husband has D group chromosome rupture, birth of a male infanticide, congenital ichthyosis, with a similar group C near the centromere abnormal chromosomes. Example 4, his wife died three consecutive premature births, some cells have a C group of chromosome long arms have increased abnormal chromosomes. The above examination results show that: in genetic counseling, couples with abortion, premature death history of chromosome examination is necessary.