A novel interstitial deletion of chromosome 2q21.1-q23.3: Case report and literature review.

Bader AlmuzzainiNasser S AlatwiSaif AlsaifMohammed A Al Balwi

Published in: Molecular genetics & genomic medicine (2020)

To the best of our knowledge this is the first report of a de novo interstitial deletion at 2q21.1-q23.3 in which haploinsufficiency of dose-sensitive genes is shown to contribute to the patient's phenotype.

Keyphrases

healthcare
case report
genome wide
copy number
genome wide identification
gene expression
dna methylation
transcription factor