[Proximal 4p syndrome in a 7-year-old moderately retarded girl]

A 7 year old girl in whom an interstitial deletion of the short arm of a chromosome no. 4 had been discovered [46, XX, del(4)(p15.2p16)] is moderately retarded and exhibits some mild craniofacial dysmorphies. Cardiological examination revealed a PDA and an ASD. From seven similar cases published up to now a typical phenotype cannot be concluded. Dermatoglyphics show a remarkable frequency of digital arches but the diagnostic significance is questioned by this observation.