性異常患者32例における染色体研究〔英文〕

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Thirty-two patients associated with sex abnormalities were screened for chromosome abnormalities based on short-term leucocyte cultures. Among them, 12 cases were found to be chromosomally abnormal. They are 1 case of suspected Klinefelters syndrome with an XY/XXY mosaicism, 6 cases of Klinefelters syndrome with a regular XXY sex-determining mechanism, 2 cases of Klinefelters syndrome with an XXYY sex-mechanism, 1 case having small penis with an XY/XXY mosaicism, 1 case of cryptorchism with an unusually long Y, and 1 case of azoospermia showing a relatively high incidence of chromosome breakage. Out of the 6 regular Klinefelter cases, one had a long Y chromosome and two showed chromosome breakage at a relatively high incidence. The chromosomes of the remaining 29 cases did not deviate from a normal complement, being 46, XX in females and 46, XY in males.