Partial trisomy 17p detected by spectral karyotyping

We report the case of a child with partial trisomy of the short arm of chro mosome 17, which was characterized by 24-color spectral karyotyping (SKY) a nd other fluorescence in situ hybridization (FISH) methods. The child had p henotypic features previously associated with trisomy 17p, including facial characteristics, developmental delay, postnatal growth retardation, single transverse crease, inguinal hernia, redundant neck skin folds, congenital heart defect, and club foot. This case illustrates the power of SKY for cha racterizing derivative/marker chromosomes in patients with rare cytogenetic syndromes.