<unk>  syndrome is the common name for chromosome 15q11.2-q13.1 duplication syndrome. This is a neurodevelopmental disorder, caused by the partial duplication of Chromosome 15, that confers a strong risk for autism spectrum disorder, epilepsy, and intellectual disability. It is the most common genetic cause of autism, accounting for approximately 1-3% of cases.<unk>  syndrome includes both interstitial duplications and isodicentric duplications (i.e., Idic15) of 15q11.2-13.1. Important genes likely involved in the etiology of<unk>  syndrome include UBE3A, GABRA5, GABRB3, and GABRG3. UBE3A is a ubiquitin-protein ligase that is involved in targeting proteins for degradation and plays an important role in synapse function. GABRA5, GABRB3, and GABRG3 are gamma aminobutyric acid type A (GABAA) receptor subunit genes and are likely important in<unk>  syndrome given the established role of GABA in the etiologies of autism and epilepsy.
Dup15q
Distal 18q-
Xq28
Ring chromosome 15
Ring chromosome 18
X chromosome
Ring chromosome 22
RUB A535