Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

OBJECTIVE: To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. METHODS: Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. RESULTS:...

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Detalles Bibliográficos
Autores principales: Pratte-Santos, Rodrigo, Ribeiro, Katyanne Heringer, Santos, Thainá Altoe, Cintra, Terezinha Sarquis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872914/
https://www.ncbi.nlm.nih.gov/pubmed/27074231
http://dx.doi.org/10.1590/S1679-45082016AO3592
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author Pratte-Santos, Rodrigo
Ribeiro, Katyanne Heringer
Santos, Thainá Altoe
Cintra, Terezinha Sarquis
author_facet Pratte-Santos, Rodrigo
Ribeiro, Katyanne Heringer
Santos, Thainá Altoe
Cintra, Terezinha Sarquis
author_sort Pratte-Santos, Rodrigo
collection PubMed
description OBJECTIVE: To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. METHODS: Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. RESULTS: Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. CONCLUSION: The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.
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spelling pubmed-48729142016-08-10 Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype Pratte-Santos, Rodrigo Ribeiro, Katyanne Heringer Santos, Thainá Altoe Cintra, Terezinha Sarquis Einstein (Sao Paulo) Original Article OBJECTIVE: To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. METHODS: Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. RESULTS: Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. CONCLUSION: The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment. Instituto Israelita de Ensino e Pesquisa Albert Einstein 2016 /pmc/articles/PMC4872914/ /pubmed/27074231 http://dx.doi.org/10.1590/S1679-45082016AO3592 Text en http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Pratte-Santos, Rodrigo
Ribeiro, Katyanne Heringer
Santos, Thainá Altoe
Cintra, Terezinha Sarquis
Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_full Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_fullStr Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_full_unstemmed Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_short Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
title_sort analysis of chromosomal abnormalities by cgh-array in patients with dysmorphic and intellectual disability with normal karyotype
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4872914/
https://www.ncbi.nlm.nih.gov/pubmed/27074231
http://dx.doi.org/10.1590/S1679-45082016AO3592
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