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本文报告一患儿染色体G带检查结果,其核型为46,XY,t(14:21)(14q~(ter)→14p~(11 )21p~(11)—21q~(ter)),确诊为14/21易位型21三体综合症。追溯患儿易位染色体形成原因,对患儿父母作染色体检查分析,其父核型为46,XY;其母则是45,XX,t(14:21)(14q~(ter)→14p~(11 21)p~(11)→21q~(ter)),证实其母为14/21平衡易位携带者,患儿易位染色体21三体为其母所传递。具有这样平衡易位核型的人,其子女患先天性愚型的危险比普通人群高70倍左右。因此,检出平衡易位对优生很有价值。
In this paper, we report the result of chromosome G-band test in children with karyotype of 46, XY, t (14:21) (14q ~ (ter) → 14p ~ (11) 21p ~ (11) -21q ~ Confirmed as 14/21 translocation type 21 trisomy. Tracing the cause of chromosomal translocation in children with pediatric chromosomal analysis of parents, the parent karyotype is 46, XY; the mother is 45, XX, t (14:21) (14q ~ (ter) (1121) p ~ (11) → 21q ~ (ter)), confirmed that the mother of 14/21 balanced translocation carriers, children with translocated chromosome 21 trisomy for their mothers. With such a balanced translocation of karyotype, their children suffering from congenital stupid danger of about 70 times higher than the general population. Therefore, the detection of equilibrium translocations is very valuable for eugenics.