title: Complex segregation analysis of facial clefting in Chile.
abstract: Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance.
authors.affiliation: Instituto de Malformaciones y Deformaciones Maxilofaciales, Facultad de Odontología, Universidad de Chile, Santiago.
authors.forename: H
authors.initials: H
authors.lastname: Palomino
authors.forename: R M
authors.initials: RM
authors.lastname: Cerda-Flores
authors.forename: R
authors.initials: R
authors.lastname: Blanco
authors.forename: H M
authors.initials: HM
authors.lastname: Palomino
authors.forename: S A
authors.initials: SA
authors.lastname: Barton
authors.forename: M
authors.initials: M
authors.lastname: de Andrade
authors.forename: R
authors.initials: R
authors.lastname: Chakraborty
mesh_terms: D002677:Chile / Q000453:epidemiology; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007199:Indians, South American / Q000235:genetics*; D016013:Likelihood Functions; D008297:Male; D008540:Meiosis; D008957:Models, Genetic; D010375:Pedigree; D012737:Sex Factors; D044465:White People / Q000235:genetics*