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

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.

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Journal: Molecular Genetics, Microbiology and Virology. 2018;36(4): 199‑202

DOI: 10.17116/molgen201836041199

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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

Подписка 2025-2 (Molecular Genetics, Microbiology and Virology)

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Marker chromosomes are structurally abnormal chromosomes. It can be super numeral or replace one of the normal chromosomes. Frequently marker chromosomes can be a reason for different abnormalities including intellectual disability. This study is due to molecular cytogenetic of marker chromosome in patient with autism and intellectual disability. Localization of human chromosomes painting probes revealed marker chromosome is derivate from centromeric regions of p- and q-arms of chromosome 15. For accurate study of origination of marker chromosome we have done microdissection of it followed by localization on chromosomes of healthy control and patient. Origination of marker chromosome from chromosome 15 is confirmed. Chromosome 15 is NOR-containing. We localized plasmid containing rDNA on patient chromosomes and detected two clusters if rRNA genes. Ag-NOR-staining revealed both clusters are active. Phenotype forming is discussed.

Keywords:

arker chromosome

region 15q11—q13

rRNA genes

autism

intellectual disability

arker chromosome

region 15q11—q13

rRNA genes

autism

intellectual disability

Authors:

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

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