2026-06-14T03:33:11Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/70242025-05-23T13:07:17Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19608

00925njm 22002777a 4500 dc Trifonov, Vladimir author Fluri, Simon author Binkert, Franz author Nandini, Adayapalam author Anderson, Jasen author Rodriguez, Laura author Gross, Madeleine author Kosyakova, Nadezda author Mkrtchyan, Hasmik author Ewers, Elisabeth author Reich, Daniela author Weise, Anja author Liehr, Thomas author 2008-04-15 BACKGROUND: 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. Mol Cytogenet. 2008 Apr 15;1:6. 10.1186/1755-8166-1-6 1755-8166 1755-8166 Molecular cytogenetics 18471318 http://hdl.handle.net/20.500.12105/7024 Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?