Бюллетень сибирской медицины (Mar 2018)

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

  • 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

DOI
https://doi.org/10.20538/1682-0363-2018-1-243-253
Journal volume & issue
Vol. 17, no. 1
pp. 243 – 253

Abstract

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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.

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