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

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)243-253
Number of pages11
JournalBulletin of Siberian Medicine
Volume17
Issue number1
DOIs
Publication statusPublished - 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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