21号染色体亚显微重复与21三体综合征表型（唐氏综合征）。
Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).
作者信息
Delabar J M, Sinet P M, Chadefaux B, Nicole A, Gegonne A, Stehelin D, Fridlansky F, Créau-Goldberg N, Turleau C, de Grouchy J
出版信息
Hum Genet. 1987 Jul;76(3):225-9. doi: 10.1007/BF00283612.
A patient with the phenotype of trisomy 21 (Down syndrome) was found to have a normal karyotype in blood lymphocytes and fibroblasts. Assessment of the chromosome 21 markers SOD1, CBS, ETS2, D21S11, and BCEI showed partial trisomy by duplication of a chromosome segment carrying the SOD1, CBS, and ETS2 loci and flanked by the BCEI and D21S11 loci, which are not duplicated. This submicroscopic duplication at the interface of 21q21 and 21q22.1 reduces to about 2000-3000 kb the critical segment the trisomy of which is responsible for the phenotype of trisomy 21.
一名具有21三体综合征（唐氏综合征）表型的患者，其血液淋巴细胞和成纤维细胞的核型正常。对21号染色体标记物超氧化物歧化酶1（SOD1）、胱硫醚β-合成酶（CBS）、ETS2转录因子（ETS2）、D21S11和BCEI的评估显示，通过携带SOD1、CBS和ETS2基因座的染色体片段重复出现部分三体性，该片段两侧为未重复的BCEI和D21S11基因座。21q21和21q22.1交界处的这种亚显微重复将关键片段缩小至约2000 - 3000 kb，该关键片段的三体性导致了21三体综合征的表型。
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