Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt

Background: Chromosome aberrations (CA) are the main etiology of múltiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of modérate and severe degree. They accountfor 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicros...

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Autores principales:	Alliende,M. Angélica, Curotto,Bianca, Guerra,Patricio, Santa María,Lorena, Hermosilla,Reinería, Orphanópoulos,Doris, Villanueva,Jorge, Wettig,Elizabeth, Barraza,Ximena
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2011
Materias:	Chromosome Abnormality disorders Cytogenetic analysis Molecular genetics
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000300003
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spelling	oai:scielo:S0034-988720110003000032011-08-25Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto MonttAlliende,M. AngélicaCurotto,BiancaGuerra,PatricioSanta María,LorenaHermosilla,ReineríaOrphanópoulos,DorisVillanueva,JorgeWettig,ElizabethBarraza,Ximena Chromosome Abnormality disorders Cytogenetic analysis Molecular genetics Background: Chromosome aberrations (CA) are the main etiology of múltiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of modérate and severe degree. They accountfor 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or duplications smaller than 10 MB that are overlooked by conventional cytogenetic studies. Aim: To report the results of cytogenetic and molecular studies performed in patients with a congenital malformation disease or ID with or without dysmorphic features, attended in a regional hospital. Patients and Methods: One hundred and eighty patients, 27 with a clinical diagnosis ofDown syndrome, derivedfor the sus-picion of a genetic disease, were studied. A karyogram was performed in all ofthem and in 30 cases additional molecular studies, such as fluorescence in situ hybridization (FISH) orpolymerase chain reaction (PCR) were carried out. Results: Amongthe 153 patients without Down syndrome, 20 (13%) had a genetic abnormality responsible for the altered phenotype. Sixteen had a chromosome aberration (structural and numerical aberrations in 75 and 25% respectively) andfour had genetic molecular alterations. Additional studies were performed to confirm or better characterize the chromosome aberration in 13 ofthe 30 patients in whom these were requested. Conclusions: Chromosome and specific genetic molecular studies in selected cases help to characterize patients with genetic diseases. The collaboration between academic and health care facilities is crucial.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.139 n.3 20112011-03-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000300003es10.4067/S0034-98872011000300003
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Chromosome Abnormality disorders Cytogenetic analysis Molecular genetics
spellingShingle	Chromosome Abnormality disorders Cytogenetic analysis Molecular genetics Alliende,M. Angélica Curotto,Bianca Guerra,Patricio Santa María,Lorena Hermosilla,Reinería Orphanópoulos,Doris Villanueva,Jorge Wettig,Elizabeth Barraza,Ximena Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt
description	Background: Chromosome aberrations (CA) are the main etiology of múltiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of modérate and severe degree. They accountfor 0.3 to 1% of newborns (NB) and 6 of 10,000 NB have chromosome imbalances with submicroscopic deletions or duplications smaller than 10 MB that are overlooked by conventional cytogenetic studies. Aim: To report the results of cytogenetic and molecular studies performed in patients with a congenital malformation disease or ID with or without dysmorphic features, attended in a regional hospital. Patients and Methods: One hundred and eighty patients, 27 with a clinical diagnosis ofDown syndrome, derivedfor the sus-picion of a genetic disease, were studied. A karyogram was performed in all ofthem and in 30 cases additional molecular studies, such as fluorescence in situ hybridization (FISH) orpolymerase chain reaction (PCR) were carried out. Results: Amongthe 153 patients without Down syndrome, 20 (13%) had a genetic abnormality responsible for the altered phenotype. Sixteen had a chromosome aberration (structural and numerical aberrations in 75 and 25% respectively) andfour had genetic molecular alterations. Additional studies were performed to confirm or better characterize the chromosome aberration in 13 ofthe 30 patients in whom these were requested. Conclusions: Chromosome and specific genetic molecular studies in selected cases help to characterize patients with genetic diseases. The collaboration between academic and health care facilities is crucial.
author	Alliende,M. Angélica Curotto,Bianca Guerra,Patricio Santa María,Lorena Hermosilla,Reinería Orphanópoulos,Doris Villanueva,Jorge Wettig,Elizabeth Barraza,Ximena
author_facet	Alliende,M. Angélica Curotto,Bianca Guerra,Patricio Santa María,Lorena Hermosilla,Reinería Orphanópoulos,Doris Villanueva,Jorge Wettig,Elizabeth Barraza,Ximena
author_sort	Alliende,M. Angélica
title	Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt
title_short	Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt
title_full	Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt
title_fullStr	Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt
title_full_unstemmed	Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt
title_sort	caracterización citogenético-molecular de enfermedades genéticas en el hospital base de puerto montt
publisher	Sociedad Médica de Santiago
publishDate	2011
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872011000300003
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Caracterización citogenético-molecular de enfermedades genéticas en el Hospital Base de Puerto Montt

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