Case Report: Cytogenetic and Molecular Analysis ofProximal Interstitial Deletion of 4p, Review of the Literatureand Comparison with Wolf-Hirschhorn Syndrome

摘要

We report on a two-year-old female with a de novo proximal interstitial deletion of the short arm of chromosome 4 and a tetralogyof Fallot malformation. The patient had a karyotype of 46,XX,del(4)(p14p15.33) that was further characterized by array comparativegenomic hybridization (aCGH). Phenotypic abnormalities for our patient are compared with those of previously reported patients withsimilar proximal 4p deletions as well as more distal deletions. The functions of genes that are deleted within this segment are reviewed.