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对一个脆性X染色体阳性家系进行了调查。用缺叶酸培养基(MEM-FA)和TC 199加氨甲喋呤(MTX)特殊培养基对其中10份血标本作检查,发现5例阳性患者,脆性X检出率分别为24(先证者)、16、2、4和2%(女性携带者)。对此类综合征的临床症状,脆性X染色体与智力低下及导致此综合征基因突变等问题进行了简要讨论。
A Fragile X-positive pedigree was investigated. 10 cases of blood samples were examined with MEM-FA and TC 199 plus methotrexate (MTX) special medium. The positive rate of Fragile X in 5 positive patients was 24 (proband) 16, 2, 4 and 2% (female carriers). The clinical symptoms of such syndromes, fragile X chromosomes and mental retardation and the gene mutations that lead to the syndrome and other issues were briefly discussed.