TY  - JOUR
AU  - Soloviev, Ilia
AU  - Kolotii, Alexei
AU  - Demidova, Irina
AU  - Kravets, Viktor
AU  - Kurinnaia, Oxana
AU  - Zelenova, Maria
AU  - Iourov, Ivan
AU  - Vorsanova, Svetlana
AU  - Yurov, Yuri
PY  - 2019
DA  - 2019/03/20
TI  - <b>FISH-Based Analysis of Mosaic Aneuploidy and Chromosome Instability for Investigating Molecular and Cellular Mechanisms of Disease</b>
JO  - OBM Genetics
SP  - 068
VL  - 03
IS  - 01
AB  - Recently, numerous studies have reported convincing data suggesting that chromosome instability may be not only a trigger of cancers but a possible mechanism for a wide spectrum of brain diseases. According to our original experience, chromosome instability is commonly observed during karyotyping of children with neuropsychiatric diseases and congenital malformations. To understand mechanisms of non-cancerous diseases potentially mediated by chromosome instability, which may represent an important target for molecular diagnosis and therapeutic interventions, new algorithms for molecular cytogenetic diagnostics appear to be required. Here, we address the potential of cytogenetic, molecular cytogenetic and bioinformatic analysis in children with intellectual disability, autism, epilepsy, and/or congenital malformations. Since we have found chromosome instability to be a promising biomarker of non-cancerous brain diseases, we have proposed an algorithm for investigating molecular and cellular mechanisms of neuropsychiatric disorders and congenital malformations mediated by alterations to genome stability maintenance.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1901068
DO  - 10.21926/obm.genet.1901068
ID  - Soloviev2019
ER  -