Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Jornal de Pediatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000200189 |
Resumo: | OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm) HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs) were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting. |
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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies MicroarraysCongenital anomaliesDevelopmental disabilitiesCopy number variantsDiagnosis OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm) HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs) were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting. Sociedade Brasileira de Pediatria2015-04-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000200189Jornal de Pediatria v.91 n.2 2015reponame:Jornal de Pediatria (Online)instname:Sociedade Brasileira de Pediatria (SBP)instacron:SBPE10.1016/j.jped.2014.07.003info:eu-repo/semantics/openAccessLay-Son,GuillermoEspinoza,KarenaVial,CeciliaRivera,Juan C.Guzmán,María L.Repetto,Gabriela M.eng2015-08-04T00:00:00Zoai:scielo:S0021-75572015000200189Revistahttp://www.jped.com.br/https://old.scielo.br/oai/scielo-oai.php||jped@jped.com.br1678-47820021-7557opendoar:2015-08-04T00:00Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)false |
dc.title.none.fl_str_mv |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies |
title |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies |
spellingShingle |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies Lay-Son,Guillermo Microarrays Congenital anomalies Developmental disabilities Copy number variants Diagnosis |
title_short |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies |
title_full |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies |
title_fullStr |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies |
title_full_unstemmed |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies |
title_sort |
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies |
author |
Lay-Son,Guillermo |
author_facet |
Lay-Son,Guillermo Espinoza,Karena Vial,Cecilia Rivera,Juan C. Guzmán,María L. Repetto,Gabriela M. |
author_role |
author |
author2 |
Espinoza,Karena Vial,Cecilia Rivera,Juan C. Guzmán,María L. Repetto,Gabriela M. |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Lay-Son,Guillermo Espinoza,Karena Vial,Cecilia Rivera,Juan C. Guzmán,María L. Repetto,Gabriela M. |
dc.subject.por.fl_str_mv |
Microarrays Congenital anomalies Developmental disabilities Copy number variants Diagnosis |
topic |
Microarrays Congenital anomalies Developmental disabilities Copy number variants Diagnosis |
description |
OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm) HD Array, Affymetrix, Inc., Santa Clara, CA, USA). Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs) were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-04-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000200189 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572015000200189 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1016/j.jped.2014.07.003 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
dc.source.none.fl_str_mv |
Jornal de Pediatria v.91 n.2 2015 reponame:Jornal de Pediatria (Online) instname:Sociedade Brasileira de Pediatria (SBP) instacron:SBPE |
instname_str |
Sociedade Brasileira de Pediatria (SBP) |
instacron_str |
SBPE |
institution |
SBPE |
reponame_str |
Jornal de Pediatria (Online) |
collection |
Jornal de Pediatria (Online) |
repository.name.fl_str_mv |
Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP) |
repository.mail.fl_str_mv |
||jped@jped.com.br |
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1752122320339599360 |