Display options
Cite
Trifonov V, Fluri S, Binkert F, et al. Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?. Mol Cytogenet. 2008;1:6doi: 10.1186/1755-8166-1-6.
Trifonov, V., Fluri, S., Binkert, F., Nandini, A., Anderson, J., Rodriguez, L., Gross, M., Kosyakova, N., Mkrtchyan, H., Ewers, E., Reich, D., Weise, A., & Liehr, T. (2008). Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?. Molecular cytogenetics, 16. https://doi.org/10.1186/1755-8166-1-6
Trifonov, Vladimir, et al. "Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?." Molecular cytogenetics vol. 1 (2008): 6. doi: https://doi.org/10.1186/1755-8166-1-6
Trifonov V, Fluri S, Binkert F, Nandini A, Anderson J, Rodriguez L, Gross M, Kosyakova N, Mkrtchyan H, Ewers E, Reich D, Weise A, Liehr T. Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?. Mol Cytogenet. 2008 Apr 15;1:6. doi: 10.1186/1755-8166-1-6. PMID: 18471318; PMCID: PMC2375881.
Copy Download .nbib Format: NLM
Share it on

Mol Cytogenet. 2008 Apr 15;1:6. doi: 10.1186/1755-8166-1-6.

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?.

Molecular cytogenetics

Vladimir Trifonov, Simon Fluri, Franz Binkert, Adayapalam Nandini, Jasen Anderson, Laura Rodriguez, Madeleine Gross, Nadezda Kosyakova, Hasmik Mkrtchyan, Elisabeth Ewers, Daniela Reich, Anja Weise, Thomas Liehr

Affiliations

  1. Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany. [email protected].

PMID: 18471318 PMCID: PMC2375881 DOI: 10.1186/1755-8166-1-6

Abstract

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.

References

  1. Cytogenet Genome Res. 2006;112(1-2):23-34 - PubMed
  2. Am J Med Genet. 1998 Feb 3;75(4):367-81 - PubMed
  3. Am J Hum Genet. 1991 Nov;49(5):995-1013 - PubMed
  4. Am J Med Genet A. 2007 Apr 1;143A(7):727-33 - PubMed
  5. Am J Med Genet. 2001 Mar 15;99(3):223-33 - PubMed
  6. Genes Chromosomes Cancer. 1992 Apr;4(3):257-63 - PubMed
  7. Cytogenet Genome Res. 2004;107(1-2):55-67 - PubMed
  8. J Biol Chem. 2004 Aug 20;279(34):35377-83 - PubMed
  9. Eur J Hum Genet. 2007 Apr;15(4):441-5 - PubMed
  10. Hum Genet. 2003 Dec;114(1):51-67 - PubMed
  11. Cytogenet Genome Res. 2007;116(3):158-66 - PubMed
  12. Int J Mol Med. 2007 May;19(5):719-31 - PubMed
  13. Int J Mol Med. 2002 Apr;9(4):335-9 - PubMed
  14. Prenat Diagn. 1995 Jul;15(7):615-9 - PubMed
  15. Eur J Hum Genet. 2002 Dec;10(12):790-800 - PubMed
  16. Hum Mutat. 2007 May;28(5):459-68 - PubMed
  17. Hum Genet. 2001 Mar;108(3):199-204 - PubMed

Publication Types