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

Journal ArticleOPEN ACCESS

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

Kolesnikova I
Tulupov A
Dolskiy A
et al.

Bulletin of Siberian Medicine (2018) 17(1) 243-253

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

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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.

Author supplied keywords

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

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APA

Kolesnikova, I. S., Tulupov, A. A., Dolskiy, A. A., Lemskaya, N. A., Savelov, A. A., Petrovsky, E. D., … 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

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

Abstract

Author supplied keywords

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