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緒言
1960年来の染色体分析の進歩,なかでも分染法の開発1)は,泌尿器科領域においてもKlincfelter症候群やTurner症候群などの性染色体異常の診断に大きな貢献をするようになつた。
Klinefelter症候群を呈する性染色体異常にはX染色体の過剰型であるXXY,XXXY,XXXXYの報告があり,Y染色体の過剰型としてはXYY,XXYY,XXXYYなどが,さらには様々なモザイク例の報告がある2)。
A case of XXYY sex chromosome constitution (XXYY) with hypospadia in a 8-year old male was reported. Patient was referred to us for evaluation of hypospadia. The maternal and paternal ages in years were 25 and 31 respectively at his birth. There were no similar abnormalities in his family history. Nothing particular was admitted during pregnancy and delivery, and no delay in physical development.
Showing slightly epicanthic appearance, patient had short neck, no pubic hair, no gynecomastia and small testis and epididymis. His external urethral orifice was opened at ventral side of small penis between large scrotum.
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