Case Report: Clinical Description of a Patient Carrying a 12.48 Mb Microdeletion Involving the 10p13–15.3 Region

Abstract

Partial deletion of 10p chromosome is a rare chromosomal aberration. Submicroscopic deletion of 10p15.3 is mainly related to cognitive deficits, speech disorders, motor delay, and hypotonia with the deleted region ranging from 0.15 to 4 Mb. The clinical phenotype is mainly determined by the ZMYND11 and DIP2C genes. Here, we report a rare case of feeding difficulties, hypocalcemia, and psychomotor retardation. Our patient has a 12.48 Mb deletion in 10p15.3–10p13, which is the second case of large 10p deletion among reported cases thus far.

Novel DIP2C gene splicing variant in an individual with focal infantile epilepsy

“…DIP2C deficiency is also associated with patients with deletion of chromosome 10p15.3. Patients with developmental delays have been reported to have chromosome microdeletions that mostly impact the ZMYND11 and DIP2C genes (Chen et al, 2019;DeScipio et al, 2012;Pan & Fu, 2021). We summarized clinical features of patients with seizures and abnormal DIP2C gene expression (Table S1).…”