Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/85478
Type: Artigo de periódico
Title: Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report
Author: Molck M.C.
Vieira T.P.
Simioni M.
Sgardioli I.C.
Santos A.P.dos.
Xavier A.C.
Gil-da-Silva-Lopes V.L.
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.
Editor: Wiley-Liss Inc.
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.36809
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-84919608832&partnerID=40&md5=e1222a9a7d786ab29d50418cd6131d5b
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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