Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001

Background: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. Aim: To study the frequency of chromosomal aberrations in newborns with malformations. Patients and methods: In...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Nazer H,Julio, Antolini T,Mónica, Juárez H,María Eugenia, Cifuentes O,Lucía, Hubner G,María Eugenia, Pardo V,Andrea, Castillo T,Silvia
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2003
Materias:	Abnormalities Chromosome aberrations Chromosomes, human Down syndrome Trisomy
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000600009
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:scielo:S0034-98872003000600009
record_format	dspace
spelling	oai:scielo:S0034-988720030006000092004-12-13Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001Nazer H,JulioAntolini T,MónicaJuárez H,María EugeniaCifuentes O,LucíaHubner G,María EugeniaPardo V,AndreaCastillo T,Silvia Abnormalities Chromosome aberrations Chromosomes, human Down syndrome Trisomy Background: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. Aim: To study the frequency of chromosomal aberrations in newborns with malformations. Patients and methods: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. Results: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3%). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1% died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. Conclusions: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously (Rev Méd Chile 2003; 131: 651-658)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.131 n.6 20032003-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000600009es10.4067/S0034-98872003000600009
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Abnormalities Chromosome aberrations Chromosomes, human Down syndrome Trisomy
spellingShingle	Abnormalities Chromosome aberrations Chromosomes, human Down syndrome Trisomy Nazer H,Julio Antolini T,Mónica Juárez H,María Eugenia Cifuentes O,Lucía Hubner G,María Eugenia Pardo V,Andrea Castillo T,Silvia Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001
description	Background: A cytogenetical study should be performed to every newborn with malformations. If a chromosomal aberration is found, parents must be studied to give an adequate genetic advise. Aim: To study the frequency of chromosomal aberrations in newborns with malformations. Patients and methods: In the Clinical Hospital of the University of Chile all malformations in newborns are registered, as part of the Collaborative Latin American Study of Congenital Malformations (ECLAMC). The frequency of chromosomal aberrations, determined by cytogenetical studies, was determined in newborns with malformations. Results: In the study period, there were 32,214 births. Of these, 2,268 live newborns and 43 stillbirths had malformations. Ninety nine children with malformations had chromosomal aberrations (4.3%). Trisomy 21 was the most common aberration with a rate of 23/10,000 births, followed by trisomy 18 with a rate of 4/10,000 and trisomy 18 with a rate of 1.2/10,000. Ninety four percent of these children were born alive and 16.1% died before discharge from the hospital. The masculinity indexes for Down syndrome and for trisomy 18 were 0.38 and 0.61 respectively. Conclusions: A higher frequency of female gender for trisomy 21 and male gender for trisomy 18 has not been reported previously (Rev Méd Chile 2003; 131: 651-658)
author	Nazer H,Julio Antolini T,Mónica Juárez H,María Eugenia Cifuentes O,Lucía Hubner G,María Eugenia Pardo V,Andrea Castillo T,Silvia
author_facet	Nazer H,Julio Antolini T,Mónica Juárez H,María Eugenia Cifuentes O,Lucía Hubner G,María Eugenia Pardo V,Andrea Castillo T,Silvia
author_sort	Nazer H,Julio
title	Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001
title_short	Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001
title_full	Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001
title_fullStr	Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001
title_full_unstemmed	Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001
title_sort	prevalencia al nacimiento de aberraciones cromosómicas en el hospital clínico de la universidad de chile: período 1990-2001
publisher	Sociedad Médica de Santiago
publishDate	2003
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003000600009
work_keys_str_mv	AT nazerhjulio prevalenciaalnacimientodeaberracionescromosomicasenelhospitalclinicodelauniversidaddechileperiodo19902001 AT antolinitmonica prevalenciaalnacimientodeaberracionescromosomicasenelhospitalclinicodelauniversidaddechileperiodo19902001 AT juarezhmariaeugenia prevalenciaalnacimientodeaberracionescromosomicasenelhospitalclinicodelauniversidaddechileperiodo19902001 AT cifuentesolucia prevalenciaalnacimientodeaberracionescromosomicasenelhospitalclinicodelauniversidaddechileperiodo19902001 AT hubnergmariaeugenia prevalenciaalnacimientodeaberracionescromosomicasenelhospitalclinicodelauniversidaddechileperiodo19902001 AT pardovandrea prevalenciaalnacimientodeaberracionescromosomicasenelhospitalclinicodelauniversidaddechileperiodo19902001 AT castillotsilvia prevalenciaalnacimientodeaberracionescromosomicasenelhospitalclinicodelauniversidaddechileperiodo19902001
_version_	1718436097474691072

Prevalencia al nacimiento de aberraciones cromosómicas en el Hospital Clínico de la Universidad de Chile: Período 1990-2001

Ejemplares similares