The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings.
The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures. Two additional adults with inv dup (15) from other institutions were also diagnosed in our laboratory. Seizures and mental retardation 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. However, karyotyping and fluorescent in-situ hybridization, focused in particular on chromosome 15, appear to be indicated in patients with dysmorphic phenotypes, such as the one present in our patients, and in subjects with early-onset seizures and psychomotor retardation with autistic features.
Buoni
S
S
Institute of Clinical Pediatrics, University of Siena, Italy.
Sorrentino
L
L
Farnetani
M A
MA
Pucci
L
L
Fois
A
A
D000328:Adult; D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013577:Syndrome