Carter C O, Evans K, Warren J
J Med Genet. 1980 Dec;17(6):411-5. doi: 10.1136/jmg.17.6.411.
Of 138 grandchildren of patients, four had pyloric stenosis confirmed at Ramstedt's operation. For the four categories of grandchildren of male index patients the proportion affected was 0/27, 1/17, 1/41, and 0/35 for sons' sons, sons' daughters, daughters' sons, and daughters' daughters, respectively. For the four categories of grandchildren of female index patients the proportion affected was 0/5, 1/3, 0/5, and 1/5, respectively. Though numbers are small certain findings are noteworthy. The relatively high risk to the relatives of female index patients appears even more marked in the grandchildren than the children. The grandchildren of male index patients show the sharp decrease in proportion affected that one would expect with a multifactorial threshold model, but of the few grandchildren born so far to female index patients, as many are affected as the children. In only one of the four instances was the affected grandchild born to an affected child. There is no support for the hypothesis that the higher risk to the children of female index patients is the result of a direct maternal effect on the developing fetus.
在138名患者的孙辈中，有4名在兰施泰德手术中被确诊为幽门狭窄。对于男性索引患者的四类孙辈，儿子的儿子、儿子的女儿、女儿的儿子和女儿的女儿受影响的比例分别为0/27、1/17、1/41和0/35。对于女性索引患者的四类孙辈，受影响的比例分别为0/5、1/3、0/5和1/5。尽管数量较少，但某些发现值得注意。女性索引患者亲属面临的相对较高风险在孙辈中似乎比在子女中更为明显。男性索引患者的孙辈中受影响比例急剧下降，这是多因素阈值模型所预期的，但到目前为止，女性索引患者的孙辈中受影响的人数与子女中受影响的人数一样多。在这四个案例中，只有一个受影响的孙辈是由受影响的孩子所生。没有证据支持这样的假设，即女性索引患者子女面临的较高风险是母亲对发育中胎儿的直接影响所致。
