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Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome
- Source :
- Бюллетень сибирской медицины, Vol 17, Iss 1, Pp 243-253 (2018)
- Publication Year :
- 2018
- Publisher :
- Siberian State Medical University (Tomsk), 2018.
-
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.
Details
- Language :
- English, Russian
- ISSN :
- 16820363 and 18193684
- Volume :
- 17
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Бюллетень сибирской медицины
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.f9f58ee6363c40e193145f147a66f87d
- Document Type :
- article
- Full Text :
- https://doi.org/10.20538/1682-0363-2018-1-243-253