Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile

Background: The presence of major genes in the susceptibility of non syndromic cleft lip with or without cleft palate (CL/P) in Chile has been postulated, considering the high prevalence and familial aggregation of this condition. Aim: To study the familial recurrence of CL/P in Chile. Patients and...

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Autores principales:	Palomino Z,Hernán, Guzmán A,Emma, Blanco C.,Rafael
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2000
Materias:	Cleft lip Cleft palate Genetics medical Hereditary diseases
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000300006
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spelling	oai:scielo:S0034-988720000003000062000-06-20Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de ChilePalomino Z,HernánGuzmán A,EmmaBlanco C.,Rafael Cleft lip Cleft palate Genetics medical Hereditary diseases Background: The presence of major genes in the susceptibility of non syndromic cleft lip with or without cleft palate (CL/P) in Chile has been postulated, considering the high prevalence and familial aggregation of this condition. Aim: To study the familial recurrence of CL/P in Chile. Patients and methods: The recurrence risk of CL/P was studied in 217 extended pedigrees where 33 (15.2%) were multiplex (21 male and 12 female propositi). These multiplex extended pedigrees (with more than one affected individual) represented 75 nuclear pedigrees, constituted by 840 males and 803 females and are the basic information of this study. Results: A significantly higher frequency of affected males (4.15%) than affected females (2.27%) was observed, independent of the difference in number of propositi by sex. Even though no differences were observed between families where both parents were unaffected, compared to those with only one affected parent, a higher proportion of affected descendants was found when the affected propositi was the mother. In multiplex families, the recurrence risk, according to the genetic proximity to the proband, was 10.1, 3.6 and 3.3% respectively for first, second and third degree relatives. The figures were 1.5, 0.5 and 0.4% respectively, when adjusted to the 217 extended pedigrees. Considering that the risk for the general population in Chile is approximately 0.16%, it is 10.3, 3.2 and 2.6 times higher among affected families. Conclusions: The high heritability of CL/P and the risk encountered for the Chilean population supports the hypothesis of major genes involved in its susceptibilityinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.128 n.3 20002000-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000300006es10.4067/S0034-98872000000300006
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cleft lip Cleft palate Genetics medical Hereditary diseases
spellingShingle	Cleft lip Cleft palate Genetics medical Hereditary diseases Palomino Z,Hernán Guzmán A,Emma Blanco C.,Rafael Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile
description	Background: The presence of major genes in the susceptibility of non syndromic cleft lip with or without cleft palate (CL/P) in Chile has been postulated, considering the high prevalence and familial aggregation of this condition. Aim: To study the familial recurrence of CL/P in Chile. Patients and methods: The recurrence risk of CL/P was studied in 217 extended pedigrees where 33 (15.2%) were multiplex (21 male and 12 female propositi). These multiplex extended pedigrees (with more than one affected individual) represented 75 nuclear pedigrees, constituted by 840 males and 803 females and are the basic information of this study. Results: A significantly higher frequency of affected males (4.15%) than affected females (2.27%) was observed, independent of the difference in number of propositi by sex. Even though no differences were observed between families where both parents were unaffected, compared to those with only one affected parent, a higher proportion of affected descendants was found when the affected propositi was the mother. In multiplex families, the recurrence risk, according to the genetic proximity to the proband, was 10.1, 3.6 and 3.3% respectively for first, second and third degree relatives. The figures were 1.5, 0.5 and 0.4% respectively, when adjusted to the 217 extended pedigrees. Considering that the risk for the general population in Chile is approximately 0.16%, it is 10.3, 3.2 and 2.6 times higher among affected families. Conclusions: The high heritability of CL/P and the risk encountered for the Chilean population supports the hypothesis of major genes involved in its susceptibility
author	Palomino Z,Hernán Guzmán A,Emma Blanco C.,Rafael
author_facet	Palomino Z,Hernán Guzmán A,Emma Blanco C.,Rafael
author_sort	Palomino Z,Hernán
title	Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile
title_short	Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile
title_full	Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile
title_fullStr	Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile
title_full_unstemmed	Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile
title_sort	recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de chile
publisher	Sociedad Médica de Santiago
publishDate	2000
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000300006
work_keys_str_mv	AT palominozhernan recurrenciafamiliardelabioleporinoconosinfisuravelopalatinadeorigennosindromicoenpoblacionesdechile AT guzmanaemma recurrenciafamiliardelabioleporinoconosinfisuravelopalatinadeorigennosindromicoenpoblacionesdechile AT blancocrafael recurrenciafamiliardelabioleporinoconosinfisuravelopalatinadeorigennosindromicoenpoblacionesdechile
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Recurrencia familiar de labio leporino con o sin fisura velopalatina de origen no sindrómico en poblaciones de Chile

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