Partial deletion of the short arm of chromosome 3 (3p25 → 3pter) Further delineation of the clinical phenotype

Abstract

Clinical descriptions of individuals with partial deletion of the distal short arm of chromosome 3 were reported rarely. A characteristic phenotype was proposed. Another patient is presented with this cytogenetic abnormality whose physical and developmental features show similarities with, as well as differences from, previously reported cases. The clinical phenotype requires further definition. Gene dosage studies were undertaken on several serum proteins in order to try to map the location of the responsible genes on chromosome 3.