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The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability : A Clinical Case Report. / Telepova, A. S.; Romanenko, S. A.; Lemskaya, N. A. и др.

в: Molecular Genetics, Microbiology and Virology, Том 33, № 4, 01.10.2018, стр. 241-244.

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

Harvard

Telepova, AS, Romanenko, SA, Lemskaya, NA, Maksimova, YV, Shorina, AR & Yudkin, DV 2018, 'The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability: A Clinical Case Report', Molecular Genetics, Microbiology and Virology, Том. 33, № 4, стр. 241-244. https://doi.org/10.3103/S0891416818040080

APA

Telepova, A. S., Romanenko, S. A., Lemskaya, N. A., Maksimova, Y. V., Shorina, A. R., & Yudkin, D. V. (2018). The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability: A Clinical Case Report. Molecular Genetics, Microbiology and Virology, 33(4), 241-244. https://doi.org/10.3103/S0891416818040080

Vancouver

Telepova AS, Romanenko SA, Lemskaya NA, Maksimova YV, Shorina AR, Yudkin DV. The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability: A Clinical Case Report. Molecular Genetics, Microbiology and Virology. 2018 окт. 1;33(4):241-244. doi: 10.3103/S0891416818040080

Author

Telepova, A. S. ; Romanenko, S. A. ; Lemskaya, N. A. и др. / The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability : A Clinical Case Report. в: Molecular Genetics, Microbiology and Virology. 2018 ; Том 33, № 4. стр. 241-244.

BibTeX

@article{f6d99ce834e2446c9c004c4f90358baa,
title = "The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability: A Clinical Case Report",
abstract = "Abstract: Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient{\textquoteright}s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed.",
keywords = "15q11–q13 region, autism, intellectual disability, marker chromosome, rRNA genes, 15q11-q13 region",
author = "Telepova, {A. S.} and Romanenko, {S. A.} and Lemskaya, {N. A.} and Maksimova, {Yu V.} and Shorina, {A. R.} and Yudkin, {D. V.}",
year = "2018",
month = oct,
day = "1",
doi = "10.3103/S0891416818040080",
language = "English",
volume = "33",
pages = "241--244",
journal = "Molecular Genetics, Microbiology and Virology",
issn = "0891-4168",
publisher = "Allerton Press Inc.",
number = "4",

}

RIS

TY - JOUR

T1 - The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability

T2 - A Clinical Case Report

AU - Telepova, A. S.

AU - Romanenko, S. A.

AU - Lemskaya, N. A.

AU - Maksimova, Yu V.

AU - Shorina, A. R.

AU - Yudkin, D. V.

PY - 2018/10/1

Y1 - 2018/10/1

N2 - Abstract: Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient’s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed.

AB - Abstract: Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient’s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed.

KW - 15q11–q13 region

KW - autism

KW - intellectual disability

KW - marker chromosome

KW - rRNA genes

KW - 15q11-q13 region

UR - http://www.scopus.com/inward/record.url?scp=85062278425&partnerID=8YFLogxK

U2 - 10.3103/S0891416818040080

DO - 10.3103/S0891416818040080

M3 - Article

AN - SCOPUS:85062278425

VL - 33

SP - 241

EP - 244

JO - Molecular Genetics, Microbiology and Virology

JF - Molecular Genetics, Microbiology and Virology

SN - 0891-4168

IS - 4

ER -

ID: 19262217