A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report.

作者信息

Sheth Frenny, Ewers Elisabeth, Kosyakova Nadezda, Weise Anja, Sheth Jayesh, Desai Manisha, Andrieux Joris, Vermeesch Joris, Hamid Ahmed B, Ziegler Monika, Liehr Thomas

机构信息

Jena University Hospital, Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany.

出版信息

Mol Cytogenet. 2009 Nov 12;2:22. doi: 10.1186/1755-8166-2-22.

DOI:10.1186/1755-8166-2-22

PMID:19909521

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2779184/

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.

摘要