A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability

Abstract Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex...

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Autores principales: J. R. M. Ceroni, R. L. Dutra, R. S. Honjo, J. C. Llerena, A. X. Acosta, P. F. V. Medeiros, M. F. Galera, É. A. Zanardo, F. B. Piazzon, A. T. Dias, G. M. Novo-Filho, M. M. Montenegro, F. A. R. Madia, D. R. Bertola, J. B. de Melo, L. D. Kulikowski, C. A. Kim
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Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df
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spelling oai:doaj.org-article:5ba3d08972bd4534a02dc2cb4cb992df2021-12-02T15:09:06ZA Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability10.1038/s41598-018-31754-22045-2322https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df2018-09-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-31754-2https://doaj.org/toc/2045-2322Abstract Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes.J. R. M. CeroniR. L. DutraR. S. HonjoJ. C. LlerenaA. X. AcostaP. F. V. MedeirosM. F. GaleraÉ. A. ZanardoF. B. PiazzonA. T. DiasG. M. Novo-FilhoM. M. MontenegroF. A. R. MadiaD. R. BertolaJ. B. de MeloL. D. KulikowskiC. A. KimNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
J. R. M. Ceroni
R. L. Dutra
R. S. Honjo
J. C. Llerena
A. X. Acosta
P. F. V. Medeiros
M. F. Galera
É. A. Zanardo
F. B. Piazzon
A. T. Dias
G. M. Novo-Filho
M. M. Montenegro
F. A. R. Madia
D. R. Bertola
J. B. de Melo
L. D. Kulikowski
C. A. Kim
A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
description Abstract Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes.
format article
author J. R. M. Ceroni
R. L. Dutra
R. S. Honjo
J. C. Llerena
A. X. Acosta
P. F. V. Medeiros
M. F. Galera
É. A. Zanardo
F. B. Piazzon
A. T. Dias
G. M. Novo-Filho
M. M. Montenegro
F. A. R. Madia
D. R. Bertola
J. B. de Melo
L. D. Kulikowski
C. A. Kim
author_facet J. R. M. Ceroni
R. L. Dutra
R. S. Honjo
J. C. Llerena
A. X. Acosta
P. F. V. Medeiros
M. F. Galera
É. A. Zanardo
F. B. Piazzon
A. T. Dias
G. M. Novo-Filho
M. M. Montenegro
F. A. R. Madia
D. R. Bertola
J. B. de Melo
L. D. Kulikowski
C. A. Kim
author_sort J. R. M. Ceroni
title A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
title_short A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
title_full A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
title_fullStr A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
title_full_unstemmed A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
title_sort multicentric brazilian investigative study of copy number variations in patients with congenital anomalies and intellectual disability
publisher Nature Portfolio
publishDate 2018
url https://doaj.org/article/5ba3d08972bd4534a02dc2cb4cb992df
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