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Dup15q Syndrome

Taxonomy Code: YF-3000.2585

A neurodevelopmental disorder caused by the duplication of Chromosome 15, that is associated with a strong risk for autism spectrum disorder, epilepsy and intellectual disability. Motor impairments are very common in individuals with the disorder. Since chromosomes carry genes that determine how our bodies grow and develop, having extra chromosomal material can alter a person's physical development. Unlike many other chromosomal syndromes, there are few characteristic physical findings associated with chromosome 15q11.2-13.1 duplication syndrome, but there are some including poor muscle tone as babies, characteristic facial features, growth anomalies that result in small stature, fine and gross motor delays, delays in cognitive development and learning disabilities including intellectual disability that may be associated with behavioral problems as children age. Some experience speech/language delays, autism spectrum disorder, sensory processing disorders, attention deficit/hyperactivity disorders, anxiety disorders and gastrointestinal disorders throughout development. Medical problems include seizure disorders and increased risk for sudden infant death as well as recurrent respiratory infections in childhood, middle ear effusions requiring tubes, eczema, precocious puberty, other menstrual irregularities, overeating and weight gain. Scoliosis is also reported in adolescence.

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