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Incidental X Linked Findings A female fetus with a gain in the DMD gene

2017-07Conference object Open access
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dc.contributor.authorMarques, Bárbara
dc.contributor.authorSerafim, Silvia
dc.contributor.authorPedro, Sónia
dc.contributor.authorFerreira, Cristina
dc.contributor.authorSimão, Laurentino
dc.contributor.authorAlves, Cristina
dc.contributor.authorViegas, Mónica
dc.contributor.authorSilva, Marisa
dc.contributor.authorBrito, Filomena
dc.contributor.authorAmorim, Marta
dc.contributor.authorCorreia, Joaquim
dc.contributor.authorCorreia, Hildeberto
dc.date.accessioned2018-03-06T17:21:38Z
dc.date.available2018-03-06T17:21:38Z
dc.date.issued2017-07
dc.description.abstractIn prenatal diagnosis, chromosomal microarray analysis (CMA) has not yet fully replaced conventional cytogenetic but has rapidly become the recommended genetic test in pregnancies with ultrasound abnormalities. This methodology allows the identification of pathogenic small copy number variation (CNVs) in 5-10% of pregnancies with ultrasound abnormalities and a normal karyotype, increasing the diagnostic yield. However, this increased resolution can also result in the detection of incidental findings. Here we report a fetus referred for prenatal diagnosis due to skeletal dysplasia. Affymetrix Cytoscan HD chromosome microarray analysis was performed and a 204 kb gain was detected at Xp21.1 region (chrX: 31993622_32191110 [GRCh37]) in a female fetus, encompassing the intron 44 of the DMD gene, for the largest gene transcript. Nevertheless, if we considered the smaller transcripts it encompasses exon 1. The gain was maternally inherited. The DMD gene is involved on Becker muscular dystrophy, Cardiomyopathy, dilated, 3B and Duchenne muscular dystrophy. Intron 44 is a preferential breakpoint in about 30% of all DMD deletions, being the DMD transcript NM_004006.2 responsible for dystrophin expression in the skeletal muscle.The FGFR3 gene sequencing revealed the presence of the c.1118A >G, p.Y373C mutation associated to Thanatophoric Dysplasia, type 1 (TD1) justifying the ultrasound abnormalities.With this case, we reinforce that the discovery of CNVs in prenatal CMA goes beyond the correlation with the CNV and the ultrasound abnormalities. Incidental findings can also have a larger impact to the family clinical managing, even if not for the ongoing pregnancy for the reproductive future of the couple.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMolecular Cytogenetics. 2017;10(Suppl 1):54pt_PT
dc.identifier.doi10.1186/s13039-017-0319-3pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/5230
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relation.publisherversionhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-017-0319-3pt_PT
dc.subjectIncidental X Linked Findingspt_PT
dc.subjectDMDpt_PT
dc.subjectPrenatal Diagnosispt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleIncidental X Linked Findings A female fetus with a gain in the DMD genept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceFlorença; Itáliapt_PT
oaire.citation.endPage54pt_PT
oaire.citation.issueSuppl 1pt_PT
oaire.citation.startPage54pt_PT
oaire.citation.title11th European Cytogenetics Conference, 1-4 July 2017pt_PT
oaire.citation.volume10pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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