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本文对100例Down综合征患儿的外周血细胞进行了核型分析。结果发现21三体型、易位型和嵌合型依次为91％、2％和7％。21三体型患儿出生时父亲的平均年龄为36.6岁,母亲的平均年龄为33.5岁。全部患儿智能低下,呈典型的先天愚型面容和体征。2例易位型均为Robertson式易位(14q;21q),其中1例的父母的核型正常,但其姊为Turner综合征患者(45,XO)。另1例的父亲为平衡易位携带者(14q;21q)。对嵌合型定期进行了核型随访,发现在患儿1岁左右正常细胞与21三体细胞嵌合的比例呈动态变化,而在2岁以后则渐趋稳定。
In this paper, 100 cases of Down syndrome children with peripheral blood cells karyotype analysis. The results showed that trisomy 21, translocation and chimera were 91%, 2% and 7%, respectively. 21 The average age of trisomile children born at birth is 36.6 years and the average age of mothers is 33.5 years old. All children with mental retardation, was typical Down’s face and signs. Two of the two translocations were Robertson-type translocations (14q; 21q). One of the parents had a normal karyotype, but the second was Turner’s syndrome (45, XO). Another case of fathers was a balanced translocation carrier (14q; 21q). The karyotype was regularly followed by karyotyping. It was found that the proportion of normal and 21 trisomy cells in 1-year-old children showed a dynamic change, whereas they became more stable after 2 years of age.