Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in ge...

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Autores principales:	Cortés M,Fanny, Alliende R,M. Angélica, Barrios R,Andrés, Curotto L,Bianca, Santa María V,Lorena, Barraza O,Ximena, Troncoso A,Ledia, Mellado S,Cecilia, Pardo V,Rosa
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2005
Materias:	Abnormalities, multiple Mental retardation Prader-Willi syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000100005
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spelling	oai:scielo:S0034-988720050001000052014-08-12Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader WilliCortés M,FannyAlliende R,M. AngélicaBarrios R,AndrésCurotto L,BiancaSanta María V,LorenaBarraza O,XimenaTroncoso A,LediaMellado S,CeciliaPardo V,Rosa Abnormalities, multiple Mental retardation Prader-Willi syndrome Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause of genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25% to uniparental disomy and 1% to mutations in the imprinting center. Aim: To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. Patients and methods: Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA. Results: Twenty three (51.1%) patients had a delection, 13 (28.9%) patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n=11) and 11.5 points for patients older than 3 years (n=34); for patients aged 12 months or less, the clinical score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion. Conclusions: Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS (Rev Méd Chile 2005; 133: 33-41).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.133 n.1 20052005-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000100005es10.4067/S0034-98872005000100005
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Abnormalities, multiple Mental retardation Prader-Willi syndrome
spellingShingle	Abnormalities, multiple Mental retardation Prader-Willi syndrome Cortés M,Fanny Alliende R,M. Angélica Barrios R,Andrés Curotto L,Bianca Santa María V,Lorena Barraza O,Ximena Troncoso A,Ledia Mellado S,Cecilia Pardo V,Rosa Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
description	Background: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also the most common cause of obesity from genetic origin and it was the first disease in which imprinting and uniparental disomy were recognized as cause of genetic disorders. Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25% to uniparental disomy and 1% to mutations in the imprinting center. Aim: To analyze the clinical, genetic and molecular features of patients with PWS, seen at one institution. Patients and methods: Retrospective review of 45 patients (27 males) with PWS seen at the Genetics Outpatient Clinic at INTA. Results: Twenty three (51.1%) patients had a delection, 13 (28.9%) patients did not have a deletion. In nine patients, fluorescence in situ hybridization (FISH) study was not performed, therefore the presence of deletion was unknown. The clinical score was 8 points for patients younger than 3 years (n=11) and 11.5 points for patients older than 3 years (n=34); for patients aged 12 months or less, the clinical score was 7 points. Mean clinical score was 11 points for patients with deletion and 10 points for patients without deletion. Conclusions: Most patients with PWS have a deletion; the phenotype depends on age and the clinical score is useful for Chilean patients with PWS (Rev Méd Chile 2005; 133: 33-41).
author	Cortés M,Fanny Alliende R,M. Angélica Barrios R,Andrés Curotto L,Bianca Santa María V,Lorena Barraza O,Ximena Troncoso A,Ledia Mellado S,Cecilia Pardo V,Rosa
author_facet	Cortés M,Fanny Alliende R,M. Angélica Barrios R,Andrés Curotto L,Bianca Santa María V,Lorena Barraza O,Ximena Troncoso A,Ledia Mellado S,Cecilia Pardo V,Rosa
author_sort	Cortés M,Fanny
title	Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
title_short	Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
title_full	Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
title_fullStr	Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
title_full_unstemmed	Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi
title_sort	caracterización clínico-genético-molecular de 45 pacientes chilenos con síndrome de prader willi
publisher	Sociedad Médica de Santiago
publishDate	2005
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000100005
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Caracterización clínico-genético-molecular de 45 pacientes chilenos con Síndrome de Prader Willi

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