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
Descripción
Sumario: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.

Ejemplares similares