De novo concurrent 5p deletion and distal 17q duplication identified by fluorescence in situ hybridization (FISH).

A de novo case of unbalanced 5p/17q translocation showing a concurrent 5p deletion and distal 17q duplication has initially eluded a definitive cytogenetic identification based on chromosome banding patterns and clinical features. But it is subsequently unequivocally identified by fluorescence in situ hybridization technique using various whole chromosome painting probes.