Tenconi R, Clementi M, Turolla L
Dipartimento di Pediatria, Università di Padova, Italy.
J Med Genet. 1988 Apr;25(4):243-6. doi: 10.1136/jmg.25.4.243.
Theoretical recurrence risks for cleft lip with or without cleft palate (CL(P)) were calculated from heritability estimates derived from a population of 203 newborns with CL(P) in a total of 220,927 consecutive births in north-east Italy. Birth prevalence of CL(P) and the frequency of CL(P) in relatives of probands were estimated after exclusion of cases with CL(P) resulting from a known cause or pathogenesis. The method allowed estimation of the theoretical recurrence risk for any family by considering the total number of affected and unaffected first, second, and third degree relatives. The lower value of the theoretical risk compared to the empirical risk, obtained from retrospective data of selected families, was the result of methodological differences.
根据意大利东北部220,927例连续出生人口中203例患有唇裂伴或不伴腭裂（CL(P)）新生儿的遗传度估计值，计算了CL(P)的理论复发风险。在排除已知病因或发病机制导致的CL(P)病例后，估计了CL(P)的出生患病率和先证者亲属中CL(P)的频率。该方法通过考虑受影响和未受影响的一级、二级和三级亲属总数，估算了任何家庭的理论复发风险。理论风险值低于从选定家庭的回顾性数据中获得的经验风险值，这是方法学差异导致的结果。
