Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Ekaterina N TolmachevaElena O BelyaevaAleksandr M NikonovOlga V PlotnikovaNikolay A SkryabinTatyana V NikitinaStanislav A VasilyevYulia S YakovlevaNadezda P BabushkinaEkaterina N TolmachevaMariya E LopatkinaRenata R SavchenkoLyudmila P NazarenkoIgor N Lebedev

Published in: Molecular cytogenetics (2018)

We believe that a combination of 22q13.32-q13.33 deletion and monosomy 22 in a portion of cells can better define the clinical phenotype of the patient. Importantly, the in vivo presence of monosomic cells indicates ring chromosome instability, which may favor karyotype correction that is significant for the development of chromosomal therapy protocols.

Keyphrases

induced apoptosis
cell cycle arrest
endoplasmic reticulum stress
copy number
case report
stem cells
gene expression
oxidative stress
cell proliferation