Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature

dc.contributor.authorLiehr, Thomas
dc.contributor.authorUtine, G. E.
dc.contributor.authorTrautmann, Udo
dc.contributor.authorRauch, Anita
dc.contributor.authorKüchler, A.
dc.contributor.authorPietracz, J.
dc.contributor.authorBocian, E.
dc.contributor.authorKosyakova, N.
dc.contributor.authorMrasek, K.
dc.contributor.authorBoduroglu, K.
dc.contributor.authorWeise, A.
dc.contributor.authorAktas, D.
dc.date.accessioned2013-03-14
dc.date.available2023-10-06T14:44:07Z
dc.date.created2007
dc.date.issued2013-03-14
dc.description.abstractHere we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The sSMC(13) and sSMC(15) had inverted duplicated shapes and the sSMC(2) a ring chromosome shape. All three cases were clinically severely abnormal. A review of the available sSMC literature revealed that up to the present 73 neocentric sSMC cases including these three new cases have been reported. Seven of these cases were not characterized morphologi- cally; in the remainder, 80% had an inverted duplication, 17% a ring and 3% a minute shape. 81% of the reported neocentric sSMC carriers showed severe, 12% moderate and 8% no clinical abnormalities. In summary, we report three more neocentric sSMC cases, provide a review on all up to now published cases, highlight their special characteristics and compare them to centric sSMC.en
dc.identifier.citationCytogenetic and Genome Research 2007; 118: 31-37. <http://content.karger.com/ProdukteDB/produkte.asp?typ=pdf&doi=106438> © 2007 S. Karger AG, Basel
dc.identifier.opus-id3114
dc.identifier.urihttps://open.fau.de/handle/openfau/3114
dc.identifier.urnurn:nbn:de:bvb:29-opus-43843
dc.language.isoen
dc.subject.ddcDDC Classification::6 Technik, Medizin, angewandte Wissenschaften :: 61 Medizin und Gesundheit :: 610 Medizin und Gesundheit
dc.titleNeocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literatureen
dc.typearticle
dcterms.publisherFriedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
local.journal.titleCytogenetic and Genome Research 2007; 118: 31-37. <http://content.karger.com/ProdukteDB/produkte.asp?typ=pdf&doi=106438> © 2007 S. Karger AG, Basel
local.sendToDnbfree*
local.subject.fakultaetMedizinische Fakultät / Medizinische Fakultät -ohne weitere Spezifikation-
local.subject.gnd-
local.subject.sammlungUniversität Erlangen-Nürnberg / Nationallizenzen: Alle Beiträge sind mit Zustimmung der Rechteinhaber aufgrund einer DFG-geförderten Nationallizenz frei zugänglich. / Nationallizenzen 2007
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