20例(对)夫妇遗传咨询的染色体研究

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。

CHROMOSOME STUDY OF 20 MARRIED COUPLES FOR GENETIC COUNSELLING

A cytogenetic study was made on 20 married couples,the wives having had spontane-ous abortion,stillbirth or deliveries of dead or abnormal babies.Four couples were foundto have chromosome aberration either in themselves or in their babies.In case 1,the cou-ple were under 30 years of age,Although their karyotypes were normal,one of their infantwas of 21 trisomy(47,xx,+21).In case 2,the wife was a 21/22 Robertson translocationcarrier with same karyotype as her mother(45,xx,-21,-22,+t(Zl_q22_q)/46,xx.In the 3rdcouple of first-cousin marriage.The chromosome 14 of the husband had broken.Hiswife,though with a normal karyotype,still gave birth to a baby that was with ichthyosis.He had a submetacentric chromosome that was similar to chromosome type C.In case 4,the wife had a long arm aberration of a chromosome type C of partial cell.She has hadstillbirth of babies for three times.The above detail may suggest that chromosome study with the purpose of genetic coun-selling is quite important in obstetrics clinic for eugenic purpose to improve the popula-tion's quality.