Complex segregation analysis of facial clefting in Chile

Hernán Palomino, Ricardo M. Cerda-Flores, Rafael Blanco, Hernán M. Palomino, Sara A. Barton, Mariza De Andrade, Ranajit Chakraborty

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18 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)57-64
Number of pages8
JournalJournal of Craniofacial Genetics and Developmental Biology
Issue number2
Publication statusPublished - 1997


  • Cleft lip
  • Cleft palate
  • Complex segregation
  • Latin America
  • Major gene
  • South American population

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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