Carter C O, Evans K, Coffey R, Roberts J A, Buck A, Roberts M F
J Med Genet. 1982 Oct;19(5):329-31. doi: 10.1136/jmg.19.5.329.
A family study was based on 245 boy and 329 girl patients treated surgically for non-syndromic cleft palate between 1920 and 1929; 86 and 81 respectively were traced and had had children. These 167 were the probands for the family study and were interviewed in their homes. None was born to a consanguineous marriage. Altogether they had had 384 children of whom 11 had cleft palate (2.9 +/- 0.9%). They had 398 sibs of whom five had cleft palate, 117 grandchildren of whom one was affected, and 517 nephews and nieces of whom one was affected. This is the largest series yet available on which to base an estimate of the risks to children of patients with non-syndromic cleft palate. The risk is probably increased where a parent or sib of the proband is affected and increased to a lesser degree where a second or third degree relative is affected. The family patterns in these and other studies suggest that the aetiology of cleft palate is heterogeneous, with some families showing modified dominant inheritance. This is in contrast to cleft lip (+/- cleft palate) where the data are consistent with a multifactorial threshold model.
一项家族研究基于1920年至1929年间接受非综合征性腭裂手术治疗的245名男性患者和329名女性患者；分别追踪到其中86名男性和81名女性已育有子女。这167人是家族研究的先证者，并在其家中接受了访谈。他们均非近亲结婚所生。他们总共育有384名子女，其中11名患有腭裂（2.9±0.9%）。他们有398名兄弟姐妹，其中5名患有腭裂；有117名孙辈，其中1名患病；有517名侄子侄女，其中1名患病。这是目前可用于估计非综合征性腭裂患者子女患病风险的最大样本系列。在先证者的父母或兄弟姐妹患病的情况下，风险可能会增加；在二级或三级亲属患病的情况下，风险也会增加，但程度较小。这些研究以及其他研究中的家族模式表明，腭裂的病因是异质性的，一些家族呈现出修饰性显性遗传。这与唇裂（±腭裂）不同，唇裂的数据与多因素阈值模型一致。
