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Title: A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
Authors: Ceroni, J. R .M.
Dutra, R. L.
Honjo, R. S.
Llerena, J. C.
Acosta, A. X
Medeiros, P. F. V.
Galera, M. F.
Zanardo, É A
Piazzon, F. B.
Dias, A. T.
Novo-Filho, G. M.
Montenegro, M. M.
Madia, F A R
Bertola, D R
Melo, J. B. 
Kulikowski, L. D.
Kim, C. A.
Issue Date: 6-Sep-2018
Publisher: Springer Nature
Project: Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and Fundação de Amparo a Pesquisa do Estado de São Paulo (FAPESP) n° 2009/53105-9 and 2014/11572-8 
Chong Ae Kim, Ministério da Ciência, Tecnologia, Inovações e Comunicações/Financiadora de Estudos e Projetos-Ciência e Tecnologia – Infraestrura (MCTI/FINEP-CT-INFRA) 01/2011 – São Paulo 
Leslie Domenici Kulikowski and Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) – n° 2008/58238-4, 2009/53864-7, 2009/53105-9 and 2012/25247-6 from Roberta Lelis Dutra 
Serial title, monograph or event: Scientific Reports
Volume: 8
Issue: 1
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.
ISSN: 2045-2322
DOI: 10.1038/s41598-018-31754-2
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais

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