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 (sSMC(T)) derived from chromosome 14 i...

Descripción completa

Detalles Bibliográficos
Autores principales: Sheth, Frenny, Ewers, Elisabeth, Kosyakova, Nadezda, Weise, Anja, Sheth, Jayesh, Desai, Manisha, Andrieux, Joris, Vermeesch, Joris, Hamid, Ahmed B, Ziegler, Monika, Liehr, Thomas
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779184/
https://www.ncbi.nlm.nih.gov/pubmed/19909521
http://dx.doi.org/10.1186/1755-8166-2-22
_version_ 1782174345786818560
author Sheth, Frenny
Ewers, Elisabeth
Kosyakova, Nadezda
Weise, Anja
Sheth, Jayesh
Desai, Manisha
Andrieux, Joris
Vermeesch, Joris
Hamid, Ahmed B
Ziegler, Monika
Liehr, Thomas
author_facet Sheth, Frenny
Ewers, Elisabeth
Kosyakova, Nadezda
Weise, Anja
Sheth, Jayesh
Desai, Manisha
Andrieux, Joris
Vermeesch, Joris
Hamid, Ahmed B
Ziegler, Monika
Liehr, Thomas
author_sort Sheth, Frenny
collection PubMed
description 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 (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.
format Text
id pubmed-2779184
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-27791842009-11-19 A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report Sheth, Frenny Ewers, Elisabeth Kosyakova, Nadezda Weise, Anja Sheth, Jayesh Desai, Manisha Andrieux, Joris Vermeesch, Joris Hamid, Ahmed B Ziegler, Monika Liehr, Thomas Mol Cytogenet 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 (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. BioMed Central 2009-11-12 /pmc/articles/PMC2779184/ /pubmed/19909521 http://dx.doi.org/10.1186/1755-8166-2-22 Text en Copyright ©2009 Sheth et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case report
Sheth, Frenny
Ewers, Elisabeth
Kosyakova, Nadezda
Weise, Anja
Sheth, Jayesh
Desai, Manisha
Andrieux, Joris
Vermeesch, Joris
Hamid, Ahmed B
Ziegler, Monika
Liehr, Thomas
A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
title A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
title_full A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
title_fullStr A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
title_full_unstemmed A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
title_short A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report
title_sort small supernumerary marker chromosome present in a turner syndrome patient not derived from x- or y-chromosome: a case report
topic Case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779184/
https://www.ncbi.nlm.nih.gov/pubmed/19909521
http://dx.doi.org/10.1186/1755-8166-2-22
work_keys_str_mv AT shethfrenny asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT ewerselisabeth asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT kosyakovanadezda asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT weiseanja asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT shethjayesh asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT desaimanisha asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT andrieuxjoris asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT vermeeschjoris asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT hamidahmedb asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT zieglermonika asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT liehrthomas asmallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT shethfrenny smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT ewerselisabeth smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT kosyakovanadezda smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT weiseanja smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT shethjayesh smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT desaimanisha smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT andrieuxjoris smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT vermeeschjoris smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT hamidahmedb smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT zieglermonika smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport
AT liehrthomas smallsupernumerarymarkerchromosomepresentinaturnersyndromepatientnotderivedfromxorychromosomeacasereport

Ejemplares similares