Title: A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
Authors: Sheth, Frenny ×
Ewers, Elisabeth
Kosyakova, Nadezda
Weise, Anja
Sheth, Jayesh
Desai, Manisha
Andrieux, Joris
Vermeesch, Joris
Hamid, Ahmed
Ziegler, Monika
Liehr, Thomas #
Issue Date: Nov-2009
Publisher: BioMed Central Ltd
Series Title: Molecular Cytogenetics vol:2 issue:1
Article number: 22
Abstract: 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.
ISSN: 1755-8166
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Sheth Mol Cytogenet 2009.pdfpublisher's version pdf Published 452KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science