Cytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertion

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dc.contributor.authorMeloni, Vera Ayres [UNIFESP]
dc.contributor.authorGuilherme, Roberta Santos [UNIFESP]
dc.contributor.authorOliveira, Mariana Moyses [UNIFESP]
dc.contributor.authorMigliavacca, Michele [UNIFESP]
dc.contributor.authorTakeno, Sylvia Satomi [UNIFESP]
dc.contributor.authorMacena Sobreira, Nara Lygia
dc.contributor.authorFaria Soares, Maria de Fatima [UNIFESP]
dc.contributor.authorMello, Claudia Berlim de [UNIFESP]
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionJohns Hopkins Univ
dc.date.accessioned2016-01-24T14:37:46Z
dc.date.available2016-01-24T14:37:46Z
dc.date.issued2014-09-01
dc.description.abstractThe chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta. (C) 2014 Wiley Periodicals, Inc.en
dc.description.affiliationUniversidade Federal de São Paulo, Dept Morphol & Genet, Div Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationJohns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA
dc.description.affiliationUniversidade Federal de São Paulo, Dept Imaging Diag, BR-04023900 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Psychobiol, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Morphol & Genet, Div Genet, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Imaging Diag, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Psychobiol, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipNational Human Genome Research Institute
dc.description.sponsorshipIDNational Human Genome Research Institute: NHGRI-1U54HG006542
dc.format.extent2378-2384
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.36631
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-Blackwell, v. 164A, n. 9, p. 2378-2384, 2014.
dc.identifier.doi10.1002/ajmg.a.36631
dc.identifier.issn1552-4825
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/38136
dc.identifier.wosWOS:000340669200036
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectinterstitial deletionen
dc.subjectchromosome 6en
dc.subjectarrayen
dc.subjectcytogenomicsen
dc.subjectcongenital heart diseaseen
dc.subjectaortic coarctationen
dc.subjectclinical follow-upen
dc.titleCytogenomic Delineation and Clinical Follow-up of Two Siblings with an 8.5 Mb 6q24.2-q25.2 Deletion Inherited From a Paternal Insertionen
dc.typeinfo:eu-repo/semantics/article
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