15q11.2 microdeletion syndrome

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).

Read more

Aliases

• 15q11.2 BP1-BP2 microdeletion syndrome
• 15q11.2 microdeletion
• 15q11.2 microdeletion syndrome
• chromosome 15q11.2 deletion
• chromosome 15q11.2 deletion syndrome
• chromosome 15q11.2 deletion syndrome
• chromosome 15q11.2 microdeletion
• Del(15)(q11.2)
• Monosomy 15q11.2
• monosomy 15q11.2