Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome

We report on a patient with a de novo interstitial deletion of chromosome 4p; 46,XY,del(4) (p15.31p16.3). The cytogenetic diagnosis would predict a patient with the Wolf-Hirschhorn syndrome (WHS) since deletions of 4p16 are associated with WHS [Wilson et al., 1981]. This patient lacks the facial characteristics of WHS, but has some anomalies of WHS that are also commonly seen in other syndromes, i.e., severe growth retardation, developmental delay, and hypospadias. His molecular distal breakpoint occurs in 4p16.3 as defined by fluorescence in situ hybridization and Southern blot analysis, and his deletion does not overlap with the currently proposed WHS critical region. This case gives further support to the distal position of the WHS critical region and demonstrates some of the WHS associated phenotypes that can be attributed to a deletion of the proximal third of 4p16.3.