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

Bûlletenʹ sibirskoj mediciny（2018）

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摘要

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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关键词

intellectual disability,ribosomal DNA - rDNA,ribosomal RNA - rRNA,nucleolus organizer region - NOR,chromosome 13,fMRI,brain tracts

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