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一例表型正常的男性由于其儿子轻度智力低下而作细胞遗传学检查。父亲GTL显带染色显示在14号染色体短臂存在相当数量的额外部分var(14p+),这条变异染色体比其同源的正常14号染色体约大35%。CBG显带发现有两条明显的阳性C带,银染阳性(表明存在活性NOR),DAPI/远霉素染色阴性,说明额外的部分有重复DNA,但并不是染色体1、9、16、Y或15P异染色质的重复DNA类型。轻度智力低下儿子的GTL显带染色体表明在一条14号染色体的短
A normal-looking male was cytogenetically examined for her son’s mild mental retardation. Fetal GTL banding revealed a significant amount of extra portion of var (14p +) on the short arm of chromosome 14, which is approximately 35% larger than its cognate normal chromosome 14. CBG bands were found to have two distinct positive C bands, silver positive (indicating the presence of active NOR) and negative for DAPI / farmycin staining, indicating that the extra part has duplicate DNA but not chromosomes 1, 9, 16, Y Or 15P heterochromatin repeat DNA types. GTL chromosomes with mild mental retardation showed a short chromosome in chromosome 14