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dc.contributor.authorTrifonov, Vladimir
dc.contributor.authorFluri, Simon
dc.contributor.authorBinkert, Franz
dc.contributor.authorNandini, Adayapalam
dc.contributor.authorAnderson, Jasen
dc.contributor.authorRodriguez, Laura 
dc.contributor.authorGross, Madeleine
dc.contributor.authorKosyakova, Nadezda
dc.contributor.authorMkrtchyan, Hasmik
dc.contributor.authorEwers, Elisabeth
dc.contributor.authorReich, Daniela
dc.contributor.authorWeise, Anja
dc.contributor.authorLiehr, Thomas
dc.date.accessioned2019-01-30T16:48:17Z
dc.date.available2019-01-30T16:48:17Z
dc.date.issued2008-04-15
dc.identifier.citationMol Cytogenet. 2008 Apr 15;1:6.es_ES
dc.identifier.issn1755-8166es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7024
dc.description.abstractBACKGROUND: Small supernumerary marker chromosomes (sSMC) are present ~2.6 x 106 human worldwide. sSMC are a heterogeneous group of derivative chromosomes concerning their clinical consequences as well as their chromosomal origin and shape. Besides the sSMC present in Emanuel syndrome, i.e. der(22)t(11;22)(q23;q11), only few so-called complex sSMC are reported. RESULTS: Here we report three new cases of unique complex sSMC. One was a de novo case with a dic(13 or 21;22) and two were maternally derived: a der(18)t(8;18) and a der(13 or 21)t(13 or 21;18). Thus, in summary, now 22 cases of unique complex sSMC are available in the literature. However, this special kind of sSMC might be under-diagnosed among sSMC-carriers. CONCLUSION: More comprehensive characterization of sSMC and approaches like reverse fluorescence in situ hybridization (FISH) or array based comparative genomic hybridization (array-CGH) might identify them to be more frequent than only ~0.9% among all sSMC.es_ES
dc.description.sponsorshipThis work was supported by the DFG (436 RUS 17/135/03; 436 RUS 17/109/04, 436 RUS 17/22/06, WE 3617/2-1, LI820/11-1), the DAAD/British Council support (313-ARC-XX-lk) and the Boehringer Ingelheim Fonds.es_ES
dc.language.isoenges_ES
dc.publisherBiomed Centrales_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.titleComplex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?es_ES
dc.typeArtículoes_ES
dc.rights.licenseAtribución 4.0 Internacional*
dc.identifier.pubmedID18471318es_ES
dc.format.volume1es_ES
dc.format.number1es_ES
dc.format.page6es_ES
dc.identifier.doi10.1186/1755-8166-1-6es_ES
dc.contributor.funderDFG German Research Foundation
dc.contributor.funderBoehringer Ingelheim Fonds
dc.description.peerreviewedes_ES
dc.identifier.e-issn1755-8166es_ES
dc.relation.publisherversionhttps://doi.org/10.1186/1755-8166-1-6es_ES
dc.identifier.journalMolecular cytogeneticses_ES
dc.repisalud.centroISCIII::Instituto de Investigación de Enfermedades Raras::Unidad de Investigación de Anomalías Congénitases_ES
dc.repisalud.institucionISCIIIes_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES


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Atribución 4.0 Internacional
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