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


CONCLUSIONS
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.
Sheth
Frenny
F
Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany. i8lith@mti.uni-jena.de.
Ewers
Elisabeth
E
Kosyakova
Nadezda
N
Weise
Anja
A
Sheth
Jayesh
J
Desai
Manisha
M
Andrieux
Joris
J
Vermeesch
Joris
J
Hamid
Ahmed B
AB
Ziegler
Monika
M
Liehr
Thomas
T