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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.)

Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report

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Author(s):
Molck, Miriam Coelho [1] ; Vieira, Tarsis Paiva [1] ; Simioni, Milena [1] ; Sgardioli, Ilaria Cristina [1] ; dos Santos, Ana Paula [1] ; Xavier, Ana Carolina [2] ; Gil-da-Silva-Lopes, Vera Lucia [1]
Total Authors: 7
Affiliation:
[1] Univ Campinas UNICAMP, Fac Med Sci, Dept Med Genet, Sao Paulo - Brazil
[2] Ctr Res & Rehabil Lip & Palate Lesions CRRLPL Cen, Joinville, SC - Brazil
Total Affiliations: 2
Document type: Journal article
Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 167, n. 1, p. 215-220, JAN 2015.
Web of Science Citations: 3
Abstract

The 22q11 chromosomal region contains lowcopy 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. (C) 2014 Wiley Periodicals, Inc. (AU)

FAPESP's process: 08/10596-0 - Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 11/23794-7 - Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants
FAPESP's process: 09/08756-1 - Velocardiofacial syndrome: laboratorial investigation and phenocopy possibilyts
Grantee:Vera Lúcia Gil da Silva Lopes
Support type: Regular Research Grants