A boy with 13.34-Mb interstitial deletion of chromosome 4p15: A new case report and review of the literature.

ABSTRACT: To date, >40 cases have been described with interstitial deletions involving the 4p15 region.We report a case of a 3-year-old boy with an interstitial de novo deletion of approximately 13.34 Mb in 4p15.1-15.31 having mild developmental delay and multiple minor congenital abnormalities.This case presents a clinical manifestation that is similar but not identical to other reported cases. In this report, we have provided a detailed description of a 3-year-old patient with an interstitial 4p deletion and mildly affected phenotype. We discuss the possible involvement of SLIT2, KCNIP4, and LGI2 in cortical development and RBPJ in skeletal abnormalities.

SUBMITTER: Mitroi AF 

PROVIDER: S-EPMC5758197 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature