title: Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
abstract: 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.
authors.affiliation: Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.|Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Roberta L
authors.initials: RL
authors.lastname: Dutra
authors.affiliation: Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Flavia B
authors.initials: FB
authors.lastname: Piazzon
authors.affiliation: Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Évelin A
authors.initials: ÉA
authors.lastname: Zanardo
authors.affiliation: Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Thais Virginia Moura Machado
authors.initials: TV
authors.lastname: Costa
authors.affiliation: Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.|Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Marília M
authors.initials: MM
authors.lastname: Montenegro
authors.affiliation: Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.|Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Gil M
authors.initials: GM
authors.lastname: Novo-Filho
authors.affiliation: Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Alexandre T
authors.initials: AT
authors.lastname: Dias
authors.affiliation: Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.|Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Amom M
authors.initials: AM
authors.lastname: Nascimento
authors.affiliation: Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.affiliation: Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.|Department of Collective Health - Human Reproduction and Genetics Center, Faculdade de Medicina do ABC, Santo André, São Paulo, Brazil.
authors.forename: Leslie D
authors.initials: LD
authors.lastname: Kulikowski
mesh_terms: D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D010641:Phenotype; D011379:Prognosis; D025064:Sex Chromosome Disorders / Q000235:genetics*; D018980:Williams Syndrome / Q000235:genetics* / Q000473:pathology; D014997:XYY Karyotype / Q000235:genetics*
keywords: 47,XYY syndrome; 7q11.23; Williams syndrome; atypical deletion; behavioral phenotype; genomic rearrangement