A.F. Alves

Universidade Federal de Campina Grande

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T. O. Silva

Universidade Federal de Campina Grande

Paula Frassinetti Vasconcelos de Medeiros

Universidade Federal de Campina Grande

Gabrielle S. Vianna

Instituto de Ensino e Pesquisa Santa Casa

Fernanda Sarquis Jehee

Utrecht University

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Universidade Federal de Campina Grande

Instituto de Ensino e Pesquisa Santa Casa

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Universidade Federal de Santa Maria

Universidade Federal do Ceará

Universidade Federal de Uberlândia

Universidade Federal de Mato Grosso do Sul

Universidade Federal da Paraíba

National Institute on Population Medical Genetics

Universidade Federal de Minas Gerais

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Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil

Genetics and Molecular Research (2016)

Gabrielle S. Vianna Paula Frassinetti Vasconcelos de Medeiros A.F. Alves T. O. Silva Fernanda Sarquis Jehee

In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes.In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation.Blood samples were collected from the proband and from their parents when possible.DNA was extracted and investigated using the array-CGH test.Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER).Forty-seven copy number variations (CNVs) were identified in 43/200 (21.5%) patients, including 25/98 (25.5%) in males and 22/102 (21.57%) in females.We considered 33 of these to be clinically significant, reaching a diagnosis rate of 16.5%.The sizes of the CNVs varied from 102 kb to 24 Mb in deletions and from 115 kb to 140 Mb in duplications.In 10/47 (21.3%) patients, the rearrangement involved a sex chromosome.Thirty-nine patients had one chromosomal aberration, while 2 concomitant abnormalities were detected in 4 patients.©FUNPEC-RP www.funpecrp.com.brGenetics and Molecular Research 15 (1): gmr.15017769Ten of 47 CNVs (21.3%) were > 5Mb in size.Fifteen patients had CNVs related to known syndromes.This research highlights the contribution of submicroscopic chromosomal changes to the etiology of intellectual disability and/or congenital malformation, particularly the implication of chromosomal abnormalities detected using an array-CGH test, with a high rate of 16.5%.Thus, our results support the use of array-CGH replacing standard karyotype as the first-tier cytogenetic diagnostic test for patients with multiple congenital anomalies and/or intellectual disability.

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Congenital malformations

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DECIPHER

Concomitant

10.4238/gmr.15017769

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