Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome
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 chrom...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Siberian State Medical University (Tomsk)
2018-03-01
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| Series: | Бюллетень сибирской медицины |
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| Online Access: | https://bulletin.ssmu.ru/jour/article/view/1135 |
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| author | 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 |
| author_facet | 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 |
| author_sort | I. S. Kolesnikova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f9f58ee6363c40e193145f147a66f87d |
| institution | Matheson Library |
| issn | 1682-0363 1819-3684 |
| language | English |
| publishDate | 2018-03-01 |
| publisher | Siberian State Medical University (Tomsk) |
| record_format | Article |
| series | Бюллетень сибирской медицины |
| spelling | doaj-art-f9f58ee6363c40e193145f147a66f87d2025-08-04T16:45:40ZengSiberian State Medical University (Tomsk)Бюллетень сибирской медицины1682-03631819-36842018-03-0117124325310.20538/1682-0363-2018-1-243-253782Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosomeI. S. Kolesnikova0A. A. Tulupov1A. A. Dolskiy2M. A. Lemskaya3A. A. Savelov4E. D. Petrovsky5A. A. Antonov6Yu. V. Maksimova7A. R. Shorina8I. G. Sergeeva9A. S. Telepova10A. S. Graphodatsky11D. V. Yudkin12Institute of Molecular and Cellular Biology (IMCB) SB RAS .International Tomography Center (ITC) SB RAS ; Novosibirsk State University .Institute of Molecular and Cellular Biology (IMCB) SB RAS ; Novosibirsk State University.Institute of Molecular and Cellular Biology (IMCB) SB RAS.International Tomography Center (ITC) SB RAS.International Tomography Center (ITC) SB RAS.Novosibirsk State University.Novosibirsk State Medical University ; Novosibirsk City Clinical Hospital No 1 .Novosibirsk City Clinical Hospital No 1 .Novosibirsk State University.Institute of Molecular and Cellular Biology (IMCB) SB RAS ; Novosibirsk State University.Institute of Molecular and Cellular Biology (IMCB) SB RAS .Institute of Molecular and Cellular Biology (IMCB) SB RAS ; Novosibirsk State University.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.https://bulletin.ssmu.ru/jour/article/view/1135intellectual disabilityribosomal dna – rdnaribosomal rna – rrnanucleolus organizer region – norchromosome 13fmribrain tracts |
| spellingShingle | 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 Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome Бюллетень сибирской медицины intellectual disability ribosomal dna – rdna ribosomal rna – rrna nucleolus organizer region – nor chromosome 13 fmri brain tracts |
| title | Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome |
| title_full | Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome |
| title_fullStr | Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome |
| title_full_unstemmed | Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome |
| title_short | Overexpression of rRNA genes in a patient with intellectual disability and familial 13p+ chromosome |
| title_sort | overexpression of rrna genes in a patient with intellectual disability and familial 13p chromosome |
| topic | intellectual disability ribosomal dna – rdna ribosomal rna – rrna nucleolus organizer region – nor chromosome 13 fmri brain tracts |
| url | https://bulletin.ssmu.ru/jour/article/view/1135 |
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