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Telepova A.S.

Institute of Molecular and Cellular Biology SB RAS, 630090, Novosibirsk, Russia;
Novosibirsk State University, 630090, Novosibirsk, Russia

Romanenko S.A.

Institute of Molecular and Cellular Biology SB RAS, 630090, Novosibirsk, Russia;
Novosibirsk State University, 630090, Novosibirsk, Russia

Lemskaya N.A.

Institute of Molecular and Cellular Biology SB RAS, 630090, Novosibirsk, Russia

Maksimova Iu.V.

Novosibirsk State Medical University

Shorina A.R.

Novosibirsk City Clinical Hospital No. 1, 630047, Novosibirsk, Russia

Yudkin D.V.

Institute of Molecular and Cellular Biology SB RAS, 630090, Novosibirsk, Russia;
Novosibirsk State University, 630090, Novosibirsk, Russia

Marker chromosome containing genes of rRNA related to intellectual disability: case report

Authors:

Telepova A.S., Romanenko S.A., Lemskaya N.A., Maksimova Iu.V., Shorina A.R., Yudkin D.V.

More about the authors

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To cite this article:

Telepova AS, Romanenko SA, Lemskaya NA, Maksimova IuV, Shorina AR, Yudkin DV. Marker chromosome containing genes of rRNA related to intellectual disability: case report. Molecular Genetics, Microbiology and Virology. 2018;36(4):199‑202. (In Russ.)
https://doi.org/10.17116/molgen201836041199

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References:

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  2. Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P. Small supernumerary marker chromosomes and their correlation with specific syndromes. Advanced Biomedical Research. 2015;4:140. https://orcid.org/10.4103/2277-9175.161542
  3. Grafodatsky AS, Radzhabli SI. Chromosomes of agricultural and laboratory mammals. Novosibirsk: Nauka; 1988. (In Russ.)
  4. Liehr T, ed. Fluorescence In Situ Hybridization (FISH) — Application Guide. 2nd Ed. Berlin, Heidelberg: Springer-Verlag; 2017.
  5. Maden BEH, Dent CL, Farrell TE, Garde J, McCallum FS, Wakeman JA. Clones of human ribosomal DNA containing the complete 18 S-rRNA and 28 S-rRNA genes. Biochem J. 1987;246:519-527.
  6. Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA. Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev Med Child Neurol. 1994;36:736-742.
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  8. Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet Journal of Rare Diseases. 2008;3:30. https://orcid.org/10.1186/1750-1172-3-30
  9. Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, et al. Imprint swithing on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet. 1996;14(2):163-170.
  10. Slomnicky LP, Pietrzak M, Vashishta A, Jones J, Lynch N, Elliot S, et al. Requirement of neuronal ribosome synthesis for growth and maintenance of the dendritic tree. J Biol Chem. 2016;291(11):5721-5739.
  11. Parlato R, Kreiner G, Erdmann G, Rieker C, Stotz S, Savenkova E, et al. Activation of an endogenous suicide response after perturbation of rRNA synthesis leads to neurodegeneration in mice. J Neurosci. 2008;28(48):12759-12764.

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