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对临床诊断有脑发育不全、生长发育迟缓、先天畸形、特殊面容、智力低下等８３２ 例患儿外周血淋巴细胞进行染色体分析，共发现染色体异常４３４ 例，占全部受检病例的５２－１６％ ，其中各种类型的２１ 三体综合征（Ｄｏｗｎ′ｓ）４２６ 例，占染色体异常核型的９８－１６ ％（４２６／４３４） ，有３ 例还同时合并有１３，１４ ，１８ ，１９ 号染色体数目或结构异常；其余异常核型分别涉及到５ ，８ ，１５ ，１８ ，２０ ，２２ 号染色体共８ 例。表明儿童智力低下染色体异常是重要原因，而Ｄｏｗｎ’ｓ 综合征又占绝大多数，可达９８－１６ ％ 。临床并发现１ 例极少见的异卵双胎Ｄｏｗｎ’ｓ 患儿。
Chromosome analysis of peripheral blood lymphocytes in 832 children with brain hypoplasia, growth retardation, congenital malformations, special facial features and mental retardation was performed in clinical diagnosis. A total of 434 chromosomal abnormalities were found, accounting for 52-16% of all examined cases, , Of which 426 were all types of Down’s (21), accounting for 98-16% (426/434) of chromosomal abnormalities, and 3 were also combined with 13, 14, 18, 19 Chromosome number or structural abnormalities; the remaining abnormal karyotype were involved in 5, 8, 15, 18, 20, 22 chromosomes in 8 cases. That children with mental retardation is an important cause of chromosomal abnormalities, and Down’s syndrome accounted for the vast majority, up to 98-16%. Clinical and found a rare case of fraternal twins Down’s children.