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

Overview of attention for article published in Molecular Cytogenetics, November 2017
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Title
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report
Published in
Molecular Cytogenetics, November 2017
DOI 10.1186/s13039-017-0344-2
Pubmed ID
Authors

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

Abstract

Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. 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. Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. CPG137. Registered 03 March 2017.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 33%
Lecturer 2 13%
Other 2 13%
Student > Master 1 7%
Student > Ph. D. Student 1 7%
Other 0 0%
Unknown 4 27%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 27%
Medicine and Dentistry 4 27%
Agricultural and Biological Sciences 2 13%
Neuroscience 1 7%
Design 1 7%
Other 0 0%
Unknown 3 20%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 November 2017.
All research outputs
#18,576,855
of 23,008,860 outputs
Outputs from Molecular Cytogenetics
#235
of 402 outputs
Outputs of similar age
#320,080
of 431,651 outputs
Outputs of similar age from Molecular Cytogenetics
#4
of 7 outputs
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So far Altmetric has tracked 402 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 26th percentile – i.e., 26% of its peers scored the same or lower than it.
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