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本实验室对北京妇产医院出生的68例畸形儿进行了临床表型及染色体检查。发现21三体12例,包括1例异位型,18三体或部分18三体3例,4p-综合征1例,共占所查畸形儿的23.5%。1例18三体儿及2例21三体儿为父母或母高龄,10例父母做了双亲染色体检查发现1例父为46,XY,inv(9)、1例母为46,XX,inv(11),考虑臂间倒位可能与配子形成时染色体不分离有关。
The laboratory of Beijing Maternity Hospital was born in 68 cases of deformed children clinical phenotype and chromosome examination. Twenty-one cases of trisomy 21 were found, including 1 case of ectopic type, 18 cases of trisomy 18 or partial 18 cases and 1 case of 4p-syndrome, accounting for 23.5% of the cases examined. One case with 18 trisomy and 2 cases with 21 trisomy was either a parent or a mother, and 10 parents had a parental chromosome test. One of the parents was found to be 46, XY, inv (9), and 1 case was 46, XX, inv (11) Considering that the inversion between arms may be related to the non-segregation of chromosomes when gametes are formed.