Repository logo
 
Publication

Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report

2016-11-25Journal article Open access
Simple item page
dc.contributor.authorMarques, Bárbara
dc.contributor.authorFerreira, Cristina
dc.contributor.authorBrito, Filomena
dc.contributor.authorPedro, Sónia
dc.contributor.authorAlves, Cristina
dc.contributor.authorLourenço, Teresa
dc.contributor.authorAmorim, Marta
dc.contributor.authorCorreia, Hildeberto
dc.date.accessioned2017-02-23T13:56:03Z
dc.date.available2017-02-23T13:56:03Z
dc.date.issued2016-11-25
dc.description.abstractBackground: Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far. Case presentation: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20% of lymphocytes and 73% of fibroblast cells. Next, we performed FISH analysis with multiple DNA probes and cCGH analysis. This identified the origin of the SMC as an analphoid marker resulting of invdup rearrangement of 7q35-qter region. Affimetrix CytoScan HD array analysis redefined the aSMC as a 15.42 Mb gain at 7q35-q36.3 (minimum tetraplicated region-chr7: 143,594,973-159,119,707; GRCh37/hg19) of maternal origin that encloses 67 OMIM genes, 16 of which associated to disease. Uniparental disomy of chromosome 7 (UPD 7) has been excluded. Conclusions: We report the first patient with an aSMC(7) derived from the terminal 7q region who has been molecularly and clinically full characterized. The use of SNParray in the characterization of SMC reveals to be a powerful tool, giving information not only about copy number variation but also about loss-of-heterozygosity and parental origin. We conclude that an integrated genome-wide copy number variation analysis, if possible associated to FISH and gene expression studies, could facilitate in the future the difficult task of establishing accurate genotype-phenotype correlations and help to improve genetic counselling.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMol Cytogenet. 2016 Nov 25;9:87. eCollection 2016. doi:10.1186/s13039-016-0295-zpt_PT
dc.identifier.doi10.1186/s13039-016-0295-zpt_PT
dc.identifier.issn1755-8166
dc.identifier.urihttp://hdl.handle.net/10400.18/4367
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relation.publisherversionhttps://molecularcytogenetics.biomedcentral.com/articles/10.1186/s13039-016-0295-zpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectChromosome 7pt_PT
dc.subjectAnalphoid Supernumerary Marker Chromosomept_PT
dc.subjectNeocentromerept_PT
dc.subjectPartial 7q Tetrasomypt_PT
dc.subject7q Duplicationpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleMolecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case reportpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage87pt_PT
oaire.citation.titleMolecular Cytogeneticspt_PT
oaire.citation.volume9pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
ARTIGO.pdf
Size:
2.42 MB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DGH - Artigos em revistas internacionais