In:
Molecular Cytogenetics, Springer Science and Business Media LLC, Vol. 2, No. 1 ( 2009-12)
Abstract:
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 (sSMC T ) 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 sSMC T not derived from the X- or the Y-chromosome. Conclusion More comprehensive characterization of such sSMC T might identify them to be more frequent than only ~0.6% in Turner syndrome cases according to available data.
Type of Medium:
Online Resource
ISSN:
1755-8166
DOI:
10.1186/1755-8166-2-22
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2009
detail.hit.zdb_id:
2420849-8
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