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人类标准型21-三体(Down综合征)在临床实践中还有许多尚待解决的问题,这些问题仅从核型和表型的角度作比较分析还不易弄清。这包括下列情况:(1)具有正常核型的Down综合征病例;(2)有些Down综合征患者除21号染色体外,还有其他额外的染色体,如X染色体或Y染色体;(3)具有嵌合型21三体(11～13%)核型的表型健康的母亲,其子女具有同样百分率的嵌合体,却有Down综合征的全部特征;(4)表型健康的人具有异常核型(嵌合体或额外染色体)。有些Down综合征患者,在中期染色体结构中没有任何缺陷时,但可查出生化变化和免疫变化。很多作者认为,
Human standard type 21-trisomy (Down syndrome) There are still many problems to be solved in clinical practice, these problems only from the perspective of karyotype and phenotype for comparative analysis is not easy to find out. This includes the following cases: (1) Down Syndrome patients with normal karyotype; (2) In addition to chromosome 21, some Down syndrome patients have other extra chromosomes, such as X chromosome or Y chromosome; (3) Chimeric 21 trisomy (11 ~ 13%) karyotype phenotype of healthy mothers, their children have the same percentage of chimeras, but all the features of Down syndrome; (4) phenotype healthy people with abnormal nuclei Type (chimera or extra chromosome). Some patients with Down syndrome, there is no defect in the metaphase chromosome structure, but can detect biochemical changes and immune changes. Many authors think,