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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. и др.

в: Molecular Cytogenetics, Том 10, № 1, 43, 17.11.2017, стр. 43.

Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование

Harvard

Telepova, AS, Romanenko, SA, Lemskaya, NA, Maksimova, YV, Shorina, AR & Yudkin, DV 2017, 'X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: A case report', Molecular Cytogenetics, Том. 10, № 1, 43, стр. 43. https://doi.org/10.1186/s13039-017-0344-2

APA

Telepova, A. S., Romanenko, S. A., Lemskaya, N. A., Maksimova, Y. V., Shorina, A. R., & Yudkin, D. V. (2017). X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: A case report. Molecular Cytogenetics, 10(1), 43. [43]. https://doi.org/10.1186/s13039-017-0344-2

Vancouver

Telepova AS, Romanenko SA, Lemskaya NA, Maksimova YV, Shorina AR, Yudkin DV. X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: A case report. Molecular Cytogenetics. 2017 нояб. 17;10(1):43. 43. doi: 10.1186/s13039-017-0344-2

Author

Telepova, Alena S. ; Romanenko, Svetlana A. ; Lemskaya, Natalya A. и др. / X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome : A case report. в: Molecular Cytogenetics. 2017 ; Том 10, № 1. стр. 43.

BibTeX

@article{73e9a8e7359342e081ec12bd287486f3,
title = "X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: A case report",
abstract = "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.",
keywords = "Dandy-Walker syndrome, Marker chromosome, Turner syndrome, X-chromosome, OUTCOMES, 45,X/46,X,+MAR KARYOTYPE",
author = "Telepova, {Alena S.} and Romanenko, {Svetlana A.} and Lemskaya, {Natalya A.} and Maksimova, {Yulia V.} and Shorina, {Asia R.} and Yudkin, {Dmitry V.}",
year = "2017",
month = nov,
day = "17",
doi = "10.1186/s13039-017-0344-2",
language = "English",
volume = "10",
pages = "43",
journal = "Molecular Cytogenetics",
issn = "1755-8166",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

TY - JOUR

T1 - X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome

T2 - A case report

AU - Telepova, Alena S.

AU - Romanenko, Svetlana A.

AU - Lemskaya, Natalya A.

AU - Maksimova, Yulia V.

AU - Shorina, Asia R.

AU - Yudkin, Dmitry V.

PY - 2017/11/17

Y1 - 2017/11/17

N2 - 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.

AB - 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.

KW - Dandy-Walker syndrome

KW - Marker chromosome

KW - Turner syndrome

KW - X-chromosome

KW - OUTCOMES

KW - 45,X/46,X,+MAR KARYOTYPE

UR - http://www.scopus.com/inward/record.url?scp=85034451696&partnerID=8YFLogxK

U2 - 10.1186/s13039-017-0344-2

DO - 10.1186/s13039-017-0344-2

M3 - Article

C2 - 29177011

AN - SCOPUS:85034451696

VL - 10

SP - 43

JO - Molecular Cytogenetics

JF - Molecular Cytogenetics

SN - 1755-8166

IS - 1

M1 - 43

ER -

ID: 9673482