Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome

I. S. Kolesnikova; A. A. Tulupov; A. A. Dolskiy; N. A. Lemskaya; A. A. Savelov; E. D. Petrovsky; A. A. Antonov; Yu V. Maksimova; A. R. Shorina; I. G. Sergeeva; A. S. Telepova; A. S. Graphodatsky; D. V. Yudkin

doi:10.20538/1682-0363-2018-1-243-253

Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome

I. S. Kolesnikova, A. A. Tulupov, A. A. Dolskiy, N. A. Lemskaya, A. A. Savelov, E. D. Petrovsky, A. A. Antonov, Yu V. Maksimova, A. R. Shorina, I. G. Sergeeva, A. S. Telepova, A. S. Graphodatsky, D. V. Yudkin

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Abstract

A study of a child with intellectual disability revealed an enlarged p-arm in chromosome 13 and amplified rDNA. qRT-PCR showed an approximately 6-fold increased level of rRNA in the patient's blood samples. fMRI study revealed changes in uncinate fasciculus. His father is a carrier of the same chromosome, healthy and has a normal level of rRNA.

Original language	English
Pages (from-to)	243-253
Number of pages	11
Journal	Bulletin of Siberian Medicine
Volume	17
Issue number	1
DOIs	https://doi.org/10.20538/1682-0363-2018-1-243-253
Publication status	Published - 1 Jan 2018

Keywords

Brain tracts
Chromosome 13
FMRI
Intellectual disability
Nucleolus organizer region - NOR
Ribosomal DNA - rDNA
Ribosomal RNA - rRNA

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10.20538/1682-0363-2018-1-243-253

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Kolesnikova, I. S., Tulupov, A. A., Dolskiy, A. A., Lemskaya, N. A., Savelov, A. A., Petrovsky, E. D., Antonov, A. A., Maksimova, Y. V., Shorina, A. R., Sergeeva, I. G., Telepova, A. S., Graphodatsky, A. S., & Yudkin, D. V. (2018). Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome. Bulletin of Siberian Medicine, 17(1), 243-253. https://doi.org/10.20538/1682-0363-2018-1-243-253

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title = "Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome",

abstract = "A study of a child with intellectual disability revealed an enlarged p-arm in chromosome 13 and amplified rDNA. qRT-PCR showed an approximately 6-fold increased level of rRNA in the patient's blood samples. fMRI study revealed changes in uncinate fasciculus. His father is a carrier of the same chromosome, healthy and has a normal level of rRNA.",

keywords = "Brain tracts, Chromosome 13, FMRI, Intellectual disability, Nucleolus organizer region - NOR, Ribosomal DNA - rDNA, Ribosomal RNA - rRNA",

author = "Kolesnikova, {I. S.} and Tulupov, {A. A.} and Dolskiy, {A. A.} and Lemskaya, {N. A.} and Savelov, {A. A.} and Petrovsky, {E. D.} and Antonov, {A. A.} and Maksimova, {Yu V.} and Shorina, {A. R.} and Sergeeva, {I. G.} and Telepova, {A. S.} and Graphodatsky, {A. S.} and Yudkin, {D. V.}",

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doi = "10.20538/1682-0363-2018-1-243-253",

language = "English",

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Kolesnikova, IS, Tulupov, AA, Dolskiy, AA, Lemskaya, NA, Savelov, AA, Petrovsky, ED, Antonov, AA, Maksimova, YV, Shorina, AR, Sergeeva, IG, Telepova, AS, Graphodatsky, AS & Yudkin, DV 2018, 'Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome', Bulletin of Siberian Medicine, vol. 17, no. 1, pp. 243-253. https://doi.org/10.20538/1682-0363-2018-1-243-253

TY - JOUR

T1 - Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome

AU - Kolesnikova, I. S.

AU - Tulupov, A. A.

AU - Dolskiy, A. A.

AU - Lemskaya, N. A.

AU - Savelov, A. A.

AU - Petrovsky, E. D.

AU - Antonov, A. A.

AU - Maksimova, Yu V.

AU - Shorina, A. R.

AU - Sergeeva, I. G.

AU - Telepova, A. S.

AU - Graphodatsky, A. S.

AU - Yudkin, D. V.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - A study of a child with intellectual disability revealed an enlarged p-arm in chromosome 13 and amplified rDNA. qRT-PCR showed an approximately 6-fold increased level of rRNA in the patient's blood samples. fMRI study revealed changes in uncinate fasciculus. His father is a carrier of the same chromosome, healthy and has a normal level of rRNA.

AB - A study of a child with intellectual disability revealed an enlarged p-arm in chromosome 13 and amplified rDNA. qRT-PCR showed an approximately 6-fold increased level of rRNA in the patient's blood samples. fMRI study revealed changes in uncinate fasciculus. His father is a carrier of the same chromosome, healthy and has a normal level of rRNA.

KW - Brain tracts

KW - Chromosome 13

KW - FMRI

KW - Intellectual disability

KW - Nucleolus organizer region - NOR

KW - Ribosomal DNA - rDNA

KW - Ribosomal RNA - rRNA

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U2 - 10.20538/1682-0363-2018-1-243-253

DO - 10.20538/1682-0363-2018-1-243-253

M3 - Article

AN - SCOPUS:85049959773

VL - 17

SP - 243

EP - 253

JO - Бюллетень сибирской медицины

JF - Бюллетень сибирской медицины

SN - 1682-0363

IS - 1

ER -

Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome

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