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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.)

Rare Genomic Rearrangement in a Boy with Williams-Beuren Syndrome Associated to XYY Syndrome and Intriguing Behavior

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Dutra, Roberta L. [1, 2] ; Piazzon, Flavia B. [2] ; Zanardo, Evelin A. [2] ; Moura Machado Costa, Thais Virginia [2] ; Montenegro, Marilia M. [1, 2] ; Novo-Filho, Gil M. [1, 2] ; Dias, Alexandre T. [2] ; Nascimento, Amom M. [1, 2] ; Kim, Chong Ae [1] ; Kulikowski, Leslie D. [3, 2]
Total Authors: 10
[1] Univ Sao Paulo, Fac Med, Inst Crianca, Genet Unit, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Dept Pathol, Cytogenom Lab LIM03, Sao Paulo - Brazil
[3] Fac Med ABC, Human Reprod & Genet Ctr, Dept Collect Hlth, Santo Andre, SP - Brazil
Total Affiliations: 3
Document type: Journal article
Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 167, n. 12, p. 3197-3203, DEC 2015.
Web of Science Citations: 1

Williams-Beuren syndrome (WBS) is caused by a hemizygous contiguous gene microdeletion of 1.55-1.84 Mb at 7q11.23 region. Approximately, 28 genes have been shown to contribute to classical phenotype of SWB with presence of dysmorphic facial features, supravalvular aortic stenosis (SVAS), intellectual disability, and overfriendliness. With the use of Microarray-based comparative genomic hybridization and other molecular cytogenetic techniques, is possible define with more accuracy partial or atypical deletion and refine the genotype-phenotype correlation. Here, we report on a rare genomic structural rearrangement in a boy with atypical deletion in 7q11.23 and XYY syndrome with characteristic clinical signs, but not sufficient for the diagnosis of WBS. Cytogenetic analysis of G-banding showed a karyotype 47, XYY. Analysis of DNA with the technique of MLPA (Multiplex Ligation-dependent Probe Amplification) using kits a combination of kits (P064, P036, P070, and P029) identified an atypical deletion on 7q11.23. In addition, high resolution SNP Oligonucleotide Microarray Analysis (SNP-array) confirmed the alterations found by MLPA and revealed others pathogenic CNVs, in the chromosomes 7 and X. The present report demonstrates an association not yet described in literature, between Williams-Beuren syndrome and 47, XYY. The identification of atypical deletion in 7q11.23 concomitant to additional pathogenic CNVs in others genomic regions allows a better comprehension of clinical consequences of atypical genomic rearrangements. (C) 2015 Wiley Periodicals, Inc. (AU)

FAPESP's process: 09/53105-9 - Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality
Grantee:Leslie Domenici Kulikowski
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)