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本文报导一名9岁男性先天愚型患者。用G-显带方法对患者及其父母进行了检查,证实为散发性易位型患者,其核型为:46,xy-14+t(14q21q)。并就易位型先天愚型产生的机理和临床进行了讨论。
This article reports a 9-year-old male patient with Down’s syndrome. Patients and their parents were examined by G-banding and confirmed to be sporadic translocations with a karyotype of 46, xy-14 + t (14q21q). The mechanisms and clinical outcomes of metamorphosis of metamorphosis were also discussed.