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Complex segregation analysis of 1,792 cleft lip and palate families in South America: 1967-1997

Análise de segregação complexa de 1.792 famílias com fenda lábio-palatina na América do Sul: 1967-1997

Although several studies have demonstrated familial aggregation of nonsyndromic cleft lip with or without cleft palate (CL/P), its model of inheritance remains uncertain. We report the results of complex segregation analysis performed in South American families with a newborn affected with CL/P. Families of 1,792 consecutive newborns affected with CL/P and registered during the period 1967 to 1997 were studied. A model that did not include a major locus was the best-fitting model for CL/P families. This result is in agreement with previous studies which showed a significant association of several putative susceptibility loci and CL/P, indicating that the genes involved in CL/P are likely to have only a very modest impact on disease risk.

Cleft palate; Craniofacial abnormalities; Abnormalities; Polygenic inheritance


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