A rare familial rearrangement of chromosomes 9 and 15 associated with intellectual disability: a clinical and molecular study.
Natalya A LemskayaSvetlana A RomanenkoMariia A RezakovaElena A FilimonovaDmitry Yu ProkopovAlexander A DolskiyPolina L PerelmanYulia V MaksimovaAsia R ShorinaDmitry V YudkinPublished in: Molecular cytogenetics (2021)
We discuss the case of these phenotypic and brain MRI features in light of reported signatures for 9p partial trisomy and 15 duplication syndromes and analyze how the genomic characteristics of the found breakpoint regions have contributed to the origin of the derivative chromosome. We recommend MRI for all patients with a developmental delay, especially in cases with identified rearrangements, to accumulate more information on brain phenotypes related to chromosomal syndromes.
Keyphrases
- intellectual disability
- copy number
- contrast enhanced
- autism spectrum disorder
- magnetic resonance imaging
- resting state
- white matter
- diffusion weighted imaging
- functional connectivity
- computed tomography
- cerebral ischemia
- genome wide
- early onset
- health information
- magnetic resonance
- gene expression
- subarachnoid hemorrhage
- brain injury