CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study
Abstract 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 Co...
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| Format: | Article |
| Language: | English |
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BMC
2018-08-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13039-018-0398-9 |
| _version_ | 1818499465426763776 |
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| author | Mary García-Acero Fernando Suárez-Obando Alberto Gómez-Gutiérrez |
| author_facet | Mary García-Acero Fernando Suárez-Obando Alberto Gómez-Gutiérrez |
| author_sort | Mary García-Acero |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-10T20:29:50Z |
| format | Article |
| id | doaj.art-5a1512c847d2472abd986541f5f301eb |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-10T20:29:50Z |
| publishDate | 2018-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-5a1512c847d2472abd986541f5f301eb2022-12-22T01:34:43ZengBMCMolecular Cytogenetics1755-81662018-08-011111710.1186/s13039-018-0398-9CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year studyMary García-Acero0Fernando Suárez-Obando1Alberto Gómez-Gutiérrez2Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad JaverianaInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad JaverianaInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad JaverianaAbstract 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.http://link.springer.com/article/10.1186/s13039-018-0398-9Array CGHCopy number variationUnusual findingMicrodeletion syndromeMicroduplication syndrome |
| spellingShingle | Mary García-Acero Fernando Suárez-Obando Alberto Gómez-Gutiérrez CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study Molecular Cytogenetics Array CGH Copy number variation Unusual finding Microdeletion syndrome Microduplication syndrome |
| 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 | Array CGH Copy number variation Unusual finding Microdeletion syndrome Microduplication syndrome |
| url | http://link.springer.com/article/10.1186/s13039-018-0398-9 |
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