Abstract
Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . This report suggests that a diagnosis of Inv-Dup (15) can be suspected during more benign atypical condition with a better outcome than usually reported.
Original language | English |
---|---|
Pages (from-to) | 62-65 |
Number of pages | 4 |
Journal | Neurocase |
Volume | 25 |
Issue number | 1-2 |
DOIs | |
Publication status | Published - Apr 18 2019 |
Keywords
- Adult
- Autism Spectrum Disorder/etiology
- Chromosome Aberrations
- Chromosomes, Human, Pair 15
- Epilepsy/etiology
- Female
- Humans
- Intellectual Disability/complications