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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Ceroni, J. R. M. [1] ; Dutra, R. L. [2] ; Honjo, R. S. [1] ; Llerena, Jr., J. C. [3] ; Acosta, A. X. [4] ; Medeiros, P. F. V. [5] ; Galera, M. F. [6] ; Zanardo, E. A. [2] ; Piazzon, F. B. [2] ; Dias, A. T. [2] ; Novo-Filho, G. M. [2] ; Montenegro, M. M. [2] ; Madia, F. A. R. [2] ; Bertola, D. R. [7, 1] ; de Melo, J. B. [8] ; Kulikowski, L. D. [2] ; Kim, C. A. [1]
Total Authors: 17
[1] Univ Sao Paulo, Unidade Genet, Dept Pediat, Inst Crianca, Hosp Clin, Fac Med, Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Lab Citogen, Dept Patol, Fac Med, Sao Paulo, SP - Brazil
[3] Fiocruz MS, Inst Nacl Saude Mulher Crianca & Adolescente Fern, Rio De Janeiro, RJ - Brazil
[4] Univ Fed Bahia, Salvador, BA - Brazil
[5] Univ Fed Campina Grande, Campina Grande, PB - Brazil
[6] Univ Fed Mato Grosso, Cuiaba, MT - Brazil
[7] Univ Sao Paulo, Inst Biociencias, Ctr Pesquisa Genoma Humano & Celulas Tronco, Sao Paulo, SP - Brazil
[8] Univ Coimbra, CIMAGO, Fac Med, Lab Citogenet & Genom, CNC, IBILI, Coimbra - Portugal
Total Affiliations: 8
Document type: Journal article
Source: SCIENTIFIC REPORTS; v. 8, SEP 6 2018.
Web of Science Citations: 0

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. (AU)

FAPESP's process: 09/53105-9 - Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality
Grantee:Leslie Domenici Kulikowski
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)
FAPESP's process: 09/53864-7 - Flow cytometry for the Children’s Hospital and the Institute for Treatment of Childhood Cancer at the University of São Paulo School of Medicine (FM USP)
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Multi-user Equipment Program
FAPESP's process: 14/11572-8 - Chromosomal rearrangements and their relevance in the etiology of genetic disorders: cytogenomic and molecular investigation
Grantee:Maria Isabel de Souza Aranha Melaragno
Support Opportunities: Research Projects - Thematic Grants
FAPESP's process: 08/58238-4 - Autoimmunity in children: investigation of the molecular and cellular bases of early onset of autoimmunity
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Research Projects - Thematic Grants
FAPESP's process: 12/25247-6 - Investigation of the copy number variations and complex rearrangements in patients with congenital anomalies and development delay by OLIGO-ARRAY
Grantee:Roberta Lelis Dutra
Support Opportunities: Scholarships abroad - Research Internship - Doctorate