Small supernumerary marker chromosomes (sSMC) can be present in numerically abnormal karyotypes like in a 'Turner-syndrome karyotype' mos 45,X/46,X,+mar. 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. 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.
Small supernumerary marker chromosomes ( sSMC ) can be present in numerically abnormal karyotypes like in a ' Turner - syndrome karyotype ' mos 45,X/46,X,+mar . 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 . 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 .
What chromosome is affected in Turner's syndrome?
What chromosome is affected in Turner 's syndrome ?
X
X