Chromosome 15q11.2 deletion syndrome
Chromosome 15q11.2 deletion syndrome
Definition
15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).
Also known as 15q11.2 BP1-BP2 microdeletion syndrome, 15q11.2 microdeletion syndrome, chromosome 15q11.2 deletion syndrome, Del(15)(q11.2), monosomy 15q11.2 — per MONDO