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 | |
Publication status | Published - 1 Jan 2018 |
Keywords
- Brain tracts
- Chromosome 13
- FMRI
- Intellectual disability
- Nucleolus organizer region - NOR
- Ribosomal DNA - rDNA
- Ribosomal RNA - rRNA