The syndrome of inv dup (15): Clinical, electroencephalographic, and imaging findings

The clinical and laboratory data of four pediatric patients and one adult p atient with inverted duplication (inv dup) (15) are reported. The most evid ent findings were dysmorphic features with frontal bossing; genital abnorma lities, such as macropenis or hypospadias; mental retardation; autistic beh avior, and seizures. Two additional adults with inv dup (15) front other in stitutions were also diagnosed in our laboratory. Seizures and mental retar dation were the reasons for their referral. The clinical picture of inv dup (15) seems to be quite variable since the phenotype can also be normal. Ho wever, karyotyping and fluorescent in-situ hybridization, focused in partic ular on chromosome 15, appear to be indicated in patients with dysmorphic p henotypes, such as the one present in our patients, and in subjects with ea rly-onset seizures and psychomotor retardation with autistic features.