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Type: Artigo de periódico
Title: Atypical Copy Number Abnormalities In 22q11.2 Region: Report Of Three Cases.
Author: Molck, Miriam Coelho
Vieira, Társis Paiva
Sgardioli, Ilária Cristina
Simioni, Milena
Dos Santos, Ana Paula
Souza, Josiane
Monteiro, Fabíola Paoli
Gil-da-Silva-Lopes, Vera Lúcia
Abstract: The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, with a highly variable phenotype. This chromosomal region contains low copy repeat (LCR) sequences that mediate non-allelic homologous recombination which predispose to copy number abnormalities at this locus. This article describes three patients investigated for suspicion of 22q11.2DS presenting atypical copy number abnormalities overlapping or not with the common ∼3 Mb deletion. They were investigated by G-banding karyotype, Multiplex-ligation dependent probe amplification (MLPA) and array Genomic Hibridization (aGH). Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. Atypical chromosomal abnormalities were detected: 3.6 Mb deletion at 22q11.21-q11.23 between LCRs B-F in patient 1 and approximately 1.5 Mb deletion at 22q11.21-q11.22 between LCRs D-E in patients 2 and 3. The breakpoints detected in patient 1 have not been previously described. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 region and corroborates the idea that genetic modifiers contribute to the phenotypic variability observed in proximal and distal 22q11.2 deletion syndromes.
Subject: 22q11 Deletion Syndrome
Child, Preschool
Chromosome Breakpoints
Chromosome Deletion
Genetic Heterogeneity
Segmental Duplications, Genomic
22q11.2 Deletion
Array Genomic Hybridization
Atypical Copy Number Abnormalities
Distal 22q11.2 Deletion
Genotype–phenotype Correlation
Multiplex-ligation Dependent Probe Amplification
Rights: fechado
Identifier DOI: 10.1016/j.ejmg.2013.07.002
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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