Wegner R D
Hum Genet. 1983;63(3):297-8. doi: 10.1007/BF00284670.
A fragile site on chromosome 3(p14.2) was found in lymphocytes of two unrelated patients. Expression of the trait with 6%-18% affected cells could only be demonstrated under culture conditions favouring a low concentration of folic acid. Family investigations proved the maternal transmission of the cytologic marker in one case. In contrast to other fragile sites chromatid type aberrations predominated.
在两名无亲缘关系患者的淋巴细胞中发现了3号染色体(p14.2)上的一个脆性位点。只有在有利于低叶酸浓度的培养条件下,才能显示出该性状在6%-18%的受影响细胞中的表达。家系调查证实,在一个病例中该细胞学标记为母系遗传。与其他脆性位点不同,染色单体型畸变占主导。