A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report.
Mol Cytogenet
; 2: 22, 2009 Nov 12.
Article
en En
| MEDLINE
| ID: mdl-19909521
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Mol Cytogenet
Año:
2009
Tipo del documento:
Article
País de afiliación:
Alemania