Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/202278
Type: Artigo de periódico
Title: Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report.
Author: Molck, Miriam Coelho
Vieira, Társis Paiva
Simioni, Milena
Sgardioli, Ilária Cristina
dos Santos, Ana Paula
Xavier, Ana Carolina
Gil-da-Silva-Lopes, Vera Lúcia
Abstract: The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5-Mb de novo deletion at proximal 22q11.21 region (between LCRs A-D), combined with a 1.3-Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F-H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations.
Subject: 22q11.2 Deletion
22q11.2 Distal Duplication
Copy Number Variations
Genotype-phenotype Correlation
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.36809
Address: http://www.ncbi.nlm.nih.gov/pubmed/25358462
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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