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X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

by Telepova, Alena S. , Romanenko, Svetlana A. , Lemskaya, Natalya A. , Maksimova, Yulia V. , Shorina, Asia R. , Yudkin, Dmitry V.

in Biomedical and Life Sciences / Biomedicine / Cancer genetics / Care and treatment / Case Report / Case studies / Cytogenetics / Dandy-Walker syndrome / Diagnosis / Fluorescence in situ hybridization / Human Genetics / Marker chromosome / Molecular Medicine / Turner syndrome / X-chromosome

2017

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X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

by Telepova, Alena S. , Romanenko, Svetlana A. , Lemskaya, Natalya A. , Maksimova, Yulia V. , Shorina, Asia R. , Yudkin, Dmitry V.

2017

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X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

by Telepova, Alena S. , Romanenko, Svetlana A. , Lemskaya, Natalya A. , Maksimova, Yulia V. , Shorina, Asia R. , Yudkin, Dmitry V.

2017

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Journal Article

X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

Telepova, Alena S.,

Romanenko, Svetlana A.,

Lemskaya, Natalya A.,

Maksimova, Yulia V.,

Shorina, Asia R.,

Yudkin, Dmitry V.

2017

Overview

Background Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome. Conclusion Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. Trial registration CPG137 . Registered 03 March 2017.

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Publisher

BioMed Central,BioMed Central Ltd,BMC

Subject

Biomedical and Life Sciences