Molecular Cytogenetics (Nov 2009)

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

  • Vermeesch Joris,
  • Andrieux Joris,
  • Desai Manisha,
  • Sheth Jayesh,
  • Weise Anja,
  • Kosyakova Nadezda,
  • Ewers Elisabeth,
  • Sheth Frenny,
  • Hamid Ahmed B,
  • Ziegler Monika,
  • Liehr Thomas

DOI
https://doi.org/10.1186/1755-8166-2-22
Journal volume & issue
Vol. 2, no. 1
p. 22

Abstract

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Abstract Background Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. Results Here we report the first case of an sSMC found in Turner syndrome karyotypes (sSMCT) derived from chromosome 14 in a Turner syndrome patient. According to cytogenetic and molecular cytogenetic characterization the karyotype was 46,X,+del(14)(q11.1). The present case is the third Turner syndrome case with an sSMCT not derived from the X- or the Y-chromosome. Conclusion More comprehensive characterization of such sSMCT might identify them to be more frequent than only ~0.6% in Turner syndrome cases according to available data.