2024-03-29T07:20:48Zhttp://repisalud.isciii.es/oai/requestoai:repisalud.isciii.es:20.500.12105/70242023-11-22T12:33:58Zcom_20.500.12105_2053com_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_2054
Repisalud
author
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
funder
Deutsche Forschungsgemeinschaft (Alemania)
funder
Boehringer Ingelheim Fonds
2019-01-30T16:48:17Z
2019-01-30T16:48:17Z
2008-04-15
Mol Cytogenet. 2008 Apr 15;1:6.
1755-8166
http://hdl.handle.net/20.500.12105/7024
18471318
10.1186/1755-8166-1-6
1755-8166
Molecular cytogenetics
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.
eng
Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
journal article
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URL
https://repisalud.isciii.es/bitstream/20.500.12105/7024/1/ComplexRearrangedSmallSupernumerary_2008.pdf
File
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ComplexRearrangedSmallSupernumerary_2008.pdf
URL
https://repisalud.isciii.es/bitstream/20.500.12105/7024/5/ComplexRearrangedSmallSupernumerary_2008.pdf.txt
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ComplexRearrangedSmallSupernumerary_2008.pdf.txt