クラインフェルター症候群の染色体分析

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  • Chromosome analysis in a case of klinefelter's syndrome.

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A case of Klinefelter's syndrome and the healthy male (20 cases) were studied as to the recurrent chromosome breaks (fragile sites). Peripheral blood lymphocytes were cul-tured in some chromosome medium.<br>1) A folic acid-deficient culture medium supplemented with 10% fetal bovine serum (FBS).<br>2) RPMI-1640 medium supplemented with 20% FBS.<br>3) Aminopterin 0.05 μg/ml as an inhibitor of folic acid was added 24h before harvesting the cell to RPMI-1640 medium supplemented with 10% FBS.<br>4) Methotrexate 0.05 μg/ml as an inhibitor of folic acid was added 24h before harvesting the cell to RPMI-1640 medium supplemented with 10% FBS.<br>Air dried chromosome preparation was stained with the trypsin Giemsa method. (trypsin: 0.01%)<br>The presence of the fragile site chromosome in 296 or more of the metaphases was judged as positive.<br>The patient was 160 cm tall and weighed 63 kg. At the age of 51 an IQ of under 76 (WAIS) was found. Cytogenetic investigations showed the karyotype 47, XXY.<br>Hormonal investigations showed high follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and low testosterone. These findings were compatible with Klinefelter's syndrome.<br>We found fragile site chromosomes(5q12: 3%, 10q12: 5%, 6q12 or 13: 13%). The fragile sites were observed more frequently than the healthy male (20 cases). The Detectability of the fragile sites increased when Methotrexate 0.05 μg/m1 as an inhibitor of folic acid was used for the culture medium than when FA-MEM, RPMI-1640 or Aminopterin were used.

収録刊行物

  • 医療

    医療 39 (2), 140-143, 1985

    一般社団法人 国立医療学会

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