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9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndrome

2019-07-05Conference object Open access
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dc.contributor.authorMarques, Barbara
dc.contributor.authorSerafim, Silvia
dc.contributor.authorPedro, Sonia
dc.contributor.authorTarelho, Ana Rita
dc.contributor.authorFerreira, Cristina
dc.contributor.authorGonçalves, Rui
dc.contributor.authorCorreia, Hildeberto
dc.date.accessioned2020-05-19T18:48:20Z
dc.date.available2020-05-19T18:48:20Z
dc.date.issued2019-07-05
dc.description.abstractThe increased use of chromosomal microarray analysis has led to the identification of new microdeletion/microduplication syndromes, enabling better genotype-phenotype correlations. Interstitial deletions involving the long arm of chromosome 9 are rare but recently a microdeletion syndrome at 9q21.13 was suggested, with mental retardation, speech delay, epilepsy, autistic behaviour and moderate facial dysmorphism as the main characteristics. Here we present a male child with intellectual disability, severe speech delay, microcephaly and dysmorphic features carrying an interstitial deletion, detected by the Affymetrix Cytoscan HD microarray, of 6.56 Mb at 9q21.13q21.31 region encompassing 16 OMIM genes (arr[GRCh37] 9q21.13q21.31(76551542_83116342)x1). Among the genes in the deleted region the PRUNE2, PCSK5, RORB and TRPM6 genes are expressed in the nervous system and have been describe as being candidate genes to play a role in mental retardation or neurological disorders. Although the cohort of patients identified with deletions in this region is still small our patient phenotype partially overlaps the others described in the literature. The collection of more cases with deletion of the 9q21.13 region will help establishing a clear classification for this CNV, finding the real weight in the patient’s phenotype, delineating the genetic counseling for their families, and clearly establishing this microdeletion as a syndrome.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.citationMol Cytogenet. 2019;12(Suppl 1):30. doi: 10.1186/s13039-019-0439-zpt_PT
dc.identifier.doi10.1186/s13039-019-0439-zpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6718
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMC Part of Springer Naturept_PT
dc.relation.publisherversionhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-019-0439-zpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectMicroarraypt_PT
dc.subjectMicrodeletion Syndromept_PT
dc.subject9q21.13q21.31 deletionpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.title9q21.13q21.31 deletion in a patient with intellectual disability severe speech delay and and dysmorphic features a newly recognized microdeletion syndromept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceSalzburg, Austriapt_PT
oaire.citation.issue(Suppl 1)pt_PT
oaire.citation.startPage30pt_PT
oaire.citation.title12th European Cytogenomics Conference, 6-9 July 2019pt_PT
oaire.citation.volume12pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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