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CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study
BACKGROUND: Array-based comparative genome hybridization (array CGH) is a first-line test used in the genetic evaluation of individuals with multiple anomalies, developmental delays, and cognitive deficits. In this study, we analyzed clinical indications and findings of array CGH tests of Colombian...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104019/ https://www.ncbi.nlm.nih.gov/pubmed/30166995 http://dx.doi.org/10.1186/s13039-018-0398-9 |
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author | García-Acero, Mary Suárez-Obando, Fernando Gómez-Gutiérrez, Alberto |
author_facet | García-Acero, Mary Suárez-Obando, Fernando Gómez-Gutiérrez, Alberto |
author_sort | García-Acero, Mary |
collection | PubMed |
description | BACKGROUND: Array-based comparative genome hybridization (array CGH) is a first-line test used in the genetic evaluation of individuals with multiple anomalies, developmental delays, and cognitive deficits. In this study, we analyzed clinical indications and findings of array CGH tests of Colombian individuals forwarded to a reference laboratory over a period of seven years in order to evaluate the diagnostic performance of the test in our population. RESULTS: The results of 1374 array CGH analyses of Colombian individuals were referred to the Andean Reference Institute in Colombia (Instituto de Referencia Andino) during a 7-year period (2009–2015). Chromosomal imbalances were detected in 488 cases (35%), whereas 121 cases were classified as nonpathogenic variants, 65 cases (4.7%) were classified as variants of uncertain significance, and 302 cases (22%) were classified as abnormal or pathogenic. The most common findings in the abnormal and/or pathogenic set were deletions, followed by duplications and complex rearrangements. Variants in the carrier status of autosomal recessive diseases were identified as incidental findings in 29 subjects (2%). CONCLUSIONS: Clinical indications preceding the referral of aCGH in Colombian patients are not standardized and result in unexpected pathogenic variants as well as secondary findings that need careful interpretation. Development of local infrastructure will probably improve the communication between all stakeholders, to ensure accurate clinical diagnoses. |
format | Online Article Text |
id | pubmed-6104019 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-61040192018-08-30 CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study García-Acero, Mary Suárez-Obando, Fernando Gómez-Gutiérrez, Alberto Mol Cytogenet Research BACKGROUND: Array-based comparative genome hybridization (array CGH) is a first-line test used in the genetic evaluation of individuals with multiple anomalies, developmental delays, and cognitive deficits. In this study, we analyzed clinical indications and findings of array CGH tests of Colombian individuals forwarded to a reference laboratory over a period of seven years in order to evaluate the diagnostic performance of the test in our population. RESULTS: The results of 1374 array CGH analyses of Colombian individuals were referred to the Andean Reference Institute in Colombia (Instituto de Referencia Andino) during a 7-year period (2009–2015). Chromosomal imbalances were detected in 488 cases (35%), whereas 121 cases were classified as nonpathogenic variants, 65 cases (4.7%) were classified as variants of uncertain significance, and 302 cases (22%) were classified as abnormal or pathogenic. The most common findings in the abnormal and/or pathogenic set were deletions, followed by duplications and complex rearrangements. Variants in the carrier status of autosomal recessive diseases were identified as incidental findings in 29 subjects (2%). CONCLUSIONS: Clinical indications preceding the referral of aCGH in Colombian patients are not standardized and result in unexpected pathogenic variants as well as secondary findings that need careful interpretation. Development of local infrastructure will probably improve the communication between all stakeholders, to ensure accurate clinical diagnoses. BioMed Central 2018-08-22 /pmc/articles/PMC6104019/ /pubmed/30166995 http://dx.doi.org/10.1186/s13039-018-0398-9 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research García-Acero, Mary Suárez-Obando, Fernando Gómez-Gutiérrez, Alberto CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study |
title | CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study |
title_full | CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study |
title_fullStr | CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study |
title_full_unstemmed | CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study |
title_short | CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study |
title_sort | cgh analysis in colombian patients: findings of 1374 arrays in a seven-year study |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104019/ https://www.ncbi.nlm.nih.gov/pubmed/30166995 http://dx.doi.org/10.1186/s13039-018-0398-9 |
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