Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas

Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four...

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Autores principales:	Faundes,Víctor, Santa María,Lorena, Morales,Paulina, Curotto,Bianca, Alliende,María Angélica
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2017
Materias:	Comparative Genomic Hybridization Congenital Abnormalities Neurodevelopmental Disorders
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000700854
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spelling	oai:scielo:S0034-988720170007008542017-11-27Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitasFaundes,VíctorSanta María,LorenaMorales,PaulinaCurotto,BiancaAlliende,María Angélica Comparative Genomic Hybridization Congenital Abnormalities Neurodevelopmental Disorders Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA. Material and Methods: Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients’ characteristics and a positive CMA outcome. Results: A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034). Conclusions: Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.145 n.7 20172017-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000700854es10.4067/s0034-98872017000700854
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Comparative Genomic Hybridization Congenital Abnormalities Neurodevelopmental Disorders
spellingShingle	Comparative Genomic Hybridization Congenital Abnormalities Neurodevelopmental Disorders Faundes,Víctor Santa María,Lorena Morales,Paulina Curotto,Bianca Alliende,María Angélica Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas
description	Background: In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA). Aim: To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA. Material and Methods: Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients’ characteristics and a positive CMA outcome. Results: A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034). Conclusions: Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.
author	Faundes,Víctor Santa María,Lorena Morales,Paulina Curotto,Bianca Alliende,María Angélica
author_facet	Faundes,Víctor Santa María,Lorena Morales,Paulina Curotto,Bianca Alliende,María Angélica
author_sort	Faundes,Víctor
title	Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas
title_short	Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas
title_full	Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas
title_fullStr	Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas
title_full_unstemmed	Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas
title_sort	microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas
publisher	Sociedad Médica de Santiago
publishDate	2017
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872017000700854
work_keys_str_mv	AT faundesvictor microarregloscromosomicosen236pacienteschilenoscontrastornosdelneurodesarrolloyanomaliascongenitas AT santamarialorena microarregloscromosomicosen236pacienteschilenoscontrastornosdelneurodesarrolloyanomaliascongenitas AT moralespaulina microarregloscromosomicosen236pacienteschilenoscontrastornosdelneurodesarrolloyanomaliascongenitas AT curottobianca microarregloscromosomicosen236pacienteschilenoscontrastornosdelneurodesarrolloyanomaliascongenitas AT alliendemariaangelica microarregloscromosomicosen236pacienteschilenoscontrastornosdelneurodesarrolloyanomaliascongenitas
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Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas

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