The tirsomy 8 syndrome: two additional mosaic cases

Abstract

Two patients with trisomy 8 mosaicism, confirmed by trypsin-Giemsa banding are described. While the majority of patients with this aneuploidy have been mosaics, the phenotypes of the complete and mosaic trisomies closely resemble each other. Mosaic trisomy 8 results in specific clinical findings which include skeletal dysplasia, particularly absent patellae, deep furrowing of the soles of the feet, and periarticular changes resulting in camptodactyly and progressive limitation of joint mobility.