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

Resultado de la investigación: Article

17 Citas (Scopus)

Resumen

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.

Idioma originalEnglish
Páginas (desde-hasta)57-64
Número de páginas8
PublicaciónJournal of Craniofacial Genetics and Developmental Biology
Volumen17
N.º2
EstadoPublished - 1997

Huella dactilar

Chile
Cleft Palate
Pedigree
Dominant Genes
Penetrance
Cleft Lip
Live Birth
Population
Software
Incidence
Genes

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics

Citar esto

Palomino, H., Cerda-Flores, R. M., Blanco, R., Palomino, H. M., Barton, S. A., De Andrade, M., & Chakraborty, R. (1997). Complex segregation analysis of facial clefting in Chile. Journal of Craniofacial Genetics and Developmental Biology, 17(2), 57-64.
Palomino, Hernán ; Cerda-Flores, Ricardo M. ; Blanco, Rafael ; Palomino, Hernán M. ; Barton, Sara A. ; De Andrade, Mariza ; Chakraborty, Ranajit. / Complex segregation analysis of facial clefting in Chile. En: Journal of Craniofacial Genetics and Developmental Biology. 1997 ; Vol. 17, N.º 2. pp. 57-64.
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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.",
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Palomino, H, Cerda-Flores, RM, Blanco, R, Palomino, HM, Barton, SA, De Andrade, M & Chakraborty, R 1997, 'Complex segregation analysis of facial clefting in Chile', Journal of Craniofacial Genetics and Developmental Biology, vol. 17, n.º 2, pp. 57-64.

Complex segregation analysis of facial clefting in Chile. / Palomino, Hernán; Cerda-Flores, Ricardo M.; Blanco, Rafael; Palomino, Hernán M.; Barton, Sara A.; De Andrade, Mariza; Chakraborty, Ranajit.

En: Journal of Craniofacial Genetics and Developmental Biology, Vol. 17, N.º 2, 1997, p. 57-64.

Resultado de la investigación: Article

TY - JOUR

T1 - Complex segregation analysis of facial clefting in Chile

AU - Palomino, Hernán

AU - Cerda-Flores, Ricardo M.

AU - Blanco, Rafael

AU - Palomino, Hernán M.

AU - Barton, Sara A.

AU - De Andrade, Mariza

AU - Chakraborty, Ranajit

PY - 1997

Y1 - 1997

N2 - 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.

AB - 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.

KW - Cleft lip

KW - Cleft palate

KW - Complex segregation

KW - Latin America

KW - Major gene

KW - South American population

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Palomino H, Cerda-Flores RM, Blanco R, Palomino HM, Barton SA, De Andrade M y otros. Complex segregation analysis of facial clefting in Chile. Journal of Craniofacial Genetics and Developmental Biology. 1997;17(2):57-64.