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.
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↵** Division of Medical Genetics, UCLA Center for the Health Sciences, California, USA.
↵† Kaiser Permanente Medical Center, California, USA.
↵‡ Fairview State Hospital, California, USA.
↵* This research was supported in part by University of California at Los Angeles; Mental Retardation Program and Child Psychiatry Program, NPI, UCLA, MCH-927; Interdisciplinary Training in Mental Retardation, HD-04612; Mental Retardation Research Center, UCLA, HD-00345; Research Training in Mental Retardation, HD-05615; Developmental Biology in Mental Retardation.