Menegotto B G, Salzano F M
Departamento de Genética, Instituto de Biociências, UFRGS, Porto Alegre, RS, Brazil.
J Med Genet. 1991 Feb;28(2):110-3. doi: 10.1136/jmg.28.2.110.
The relatives of 741 newborn children with non-syndromic cleft lip with or without cleft palate (CL +/- P), of 115 with isolated cleft palate (CP), and of equal numbers of appropriate controls were screened for the presence of the same or different malformations. The main findings were as follows. (1) The frequency of familial cases of CL +/- P (17.3%) was much higher than the prevalence of this malformation among the relatives of controls (0.5%). (2) The sibs of CL +/- P subjects showed a higher prevalence of this condition than their parents (2.9% v 1.6%). (3) The degree of genetic determination of this condition should be high (70 to 74%), and the data in general favour a multifactorial model of inheritance, with different thresholds between sexes. However, the action of dominant genes cannot be excluded since selection or dominant genes or both could be postulated to explain the parent/sib difference. (4) The frequency of other malformations was also significantly raised in the families of CL +/- P probands, as compared to controls (12.1% v 6.2%). (5) The prevalence of these other malformations was higher among sibs (1.6%) than parents (0.7%) of CL +/- P babies. (6) A general susceptibility to malformations and different exposure to selective agents may explain these latter findings. (7) None of the comparisons involving CP children yielded significant results.
对741例患有非综合征性唇裂伴或不伴腭裂（CL +/- P）的新生儿、115例患有单纯腭裂（CP）的新生儿以及数量相等的合适对照的亲属进行筛查，以确定是否存在相同或不同的畸形。主要发现如下：（1）CL +/- P家族性病例的发生率（17.3%）远高于对照亲属中该畸形的患病率（0.5%）。（2）CL +/- P患者的同胞中该疾病的患病率高于其父母（2.9%对1.6%）。（3）这种疾病的遗传决定程度应该很高（70%至74%），总体数据支持多因素遗传模式，男女之间存在不同阈值。然而，不能排除显性基因的作用，因为可以假设选择或显性基因或两者共同作用来解释父母/同胞差异。（4）与对照组相比，CL +/- P先证者家庭中其他畸形的发生率也显著升高（12.1%对6.2%）。（5）这些其他畸形在CL +/- P患儿的同胞中的患病率（1.6%）高于父母（0.7%）。（6）对畸形的一般易感性和对选择因素的不同暴露可能解释了后一组发现。（7）涉及CP儿童的所有比较均未产生显著结果。
