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

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

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 chrom...

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Bibliographic Details
Main Authors: I. S. Kolesnikova, A. A. Tulupov, A. A. Dolskiy, M. 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
Format: Article
Language:English
Published: Siberian State Medical University (Tomsk) 2018-03-01
Series:Бюллетень сибирской медицины
Subjects:
intellectual disability
ribosomal dna – rdna
ribosomal rna – rrna
nucleolus organizer region – nor
chromosome 13
fmri
brain tracts
Online Access:https://bulletin.ssmu.ru/jour/article/view/1135
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Summary: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.
ISSN:1682-0363
1819-3684

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