Abstract
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.
1) A folic acid-deficient culture medium supplemented with 10% fetal bovine serum (FBS).
2) RPMI-1640 medium supplemented with 20% FBS.
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.
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.
Air dried chromosome preparation was stained with the trypsin Giemsa method. (trypsin: 0.01%)
The presence of the fragile site chromosome in 296 or more of the metaphases was judged as positive.
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.
Hormonal investigations showed high follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and low testosterone. These findings were compatible with Klinefelter's syndrome.
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.
