Behavioral management of a long-term survivor with tetrasomy 18p.

摘要: We report on a 41-year-old male with dysmorphic features, marked obesity, profound mental retardation, and aggressive behavior who was recently diagnosed tetrasomy of the short arm chromosome 18, [47, XY, i(18)(p10)]. His initial diagnosis, based upon chromosomal analysis at 6 years age in 1969, “trisomy F syndrome.” Approximately 60 cases 18p are reported literature, little information regarding their long-term behavioral profiles or outcomes from therapy. describe management as well medical genetic evaluation for this older patient tetrasomy. With improved preventive care intervention, patients rare abnormalities living longer and, therefore, provide insight into natural history disorders. Efforts need to be directed toward management, social skills training, augmentation communication if quality life these individuals is continue improve. © 2006 Wiley-Liss, Inc.