Robertsonian Balanced Translocationを伴ったKlinefelter症候群-46,XXY t(13q;14q)-の1例
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概要
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Chromosome analysis of a 28-year-old man with complaint of childless life of 4-year-duration, who had typical phenotype and laboratory data of Klinefelter's syndrome, showed karyotype of 46, XXV, t(13q; 14q). Family study revealed that the abnormal chromosome was transmitted to the patient from his mother who was phenotypically normal. The patient was also normal except characteristics of Klinefelter's syndrome. Hence, the translocation itselfseems to develop no consistent phenotypical anomalies. Karyotypes of 111 patients with Klinefelter phenotype who were seen at the Department of Urology, Faculty of Medicine, Kyoto University were reviewed.
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