本文回顾性分析了上海市儿研所１９８６ ．１１９９４．９ 检出的５２ 例新生儿染色体异常结果，并就其临床意义做了讨论。文中讨论了５２ 例染色体异常类型：２１ 三体４４ 例，染色体部分三体４ 例，平衡易位２ 例，性染色体异常２ 例。文中对２１／２１ 易位三体产生的后果及优生指导作了分析。文中还对平衡易位一个家庭内的二个子代获得与父亲相同核型，并就其中一个子代的表型异常作了探讨。并对新生儿期性染色体综合征常缺乏典型表现，指出临床应予重视。最后对新生儿畸形与染色体畸变的相关性，染色体检查的临床意义，以及对家庭成员的生育指导、产前诊断选择、终止妊娠等措施作了讨论。从而以达到减少染色体病儿的出生有利于降低新生儿发病率和死亡率并有利于人口素质的提高 This paper retrospectively analyzed the Shanghai Institute of Research 1986. 1  1994.9 detected in 52 cases of neonatal chromosomal abnormalities, and discussed its clinical significance. Discussed in 52 cases of chromosomal abnormalities types: trisomy 21 44 cases, partial chromosome trisomy 4 cases, 2 cases of balanced translocation, 2 cases of sex chromosome abnormalities. The article analyzed the consequences and eugenics guidance of 21/21 translocation trisomy. In the article, two offspring in a family with balanced translocations also acquire the same karyotype as their father, and discuss the phenotypic abnormality of one of the offspring. And neonatal sex chromosome syndrome often lack typical performance, pointed out that clinical should pay attention. Finally, the relationship between neonatal deformity and chromosomal aberration, the clinical significance of chromosome examination, as well as the guidance of family members’ fertility, prenatal diagnosis and selection, termination of pregnancy and other measures were discussed. So as to reduce the incidence of chromosomal sick children is conducive to reducing neonatal morbidity and mortality and is conducive to improving the quality of the population