Interstitial duplication of 8q22.1-q23.1- A case report and review of the literature.

Steven LearyHarry S PorterfieldJaclyn R KotlarekBenjamin W DarbroAlpa Sidhu

Published in: Clinical case reports (2019)

This report highlights the clinical features seen in duplication of 8q22.1q23.1 inherited from balanced father. It stresses the importance of obtaining a karyotype to identify the location of a large copy number variant for accurate recurrence risk estimation.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
high resolution
free survival
gene expression