Trisomy 4p de novo detected by fluorescence in situ hybridization

Trisomy 4p syndrome is a distinct clinical entity which had been observed by Wilson (1) almost a quarter of century ago and was later on delineated by Gonzales (2). This chromosomal anomaly is either due to meiotic segregation from a parental balanced translocation or the result of de novo duplication. In this paper we report a new case of de novo 4p trisomy resulted in an unbalanced translocation in a 8-year old girl with dysmorphic features, delayed development and epilepsy. FISH technique has been fundamental in the characterization of the abnormal chromosome.