【摘要】 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(TC199)检查2名患者,脆性X检出率分别为13％,19％,本家系内尚有1名男性携带者,提示该家系脆性X染色体综合征不属于典型的X连锁隐性遗传。更多还原

【Abstract】 We found a family in which 2 patients with fra(x) were identified. The fragile site of xq27 could be revealed in cultures of peripheral blood by using culture medium without folic acid.The lymphocytes of peripheral blood were cultured in TC199 medium and chromosomal G-banding technique was used. The frequencies of the fra (x) were 13%. 19% respectively,and there was a male carrier in the farnily.lt was suggested that the fra(x) syndrome in the family didn’t belong to the typical x-linked recessive inheritance.更多还原