Dup15q Syndrome: The Davison Family talks about their son Tucker and life with Dup15q Syndrome.
Автор: Dup15q Alliance
Загружено: 2020-06-16
Просмотров: 4715
Dup15q syndrome is characterized by having an extra copy of a portion of chromosome 15 in the 11.2 – 13.1 region in combination with a number of symptoms that may include hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal Dup15q may also be associated with psychosis or sudden unexplained death.
It is important to acknowledge that there is a wide range of developmental disabilities experienced by individuals with chromosome 15q11.2-13.1 duplication syndrome. Two individuals with the same Dup15q chromosome pattern may be very different in terms of their abilities. Reviews of the scientific literature do not show an obvious correlation between the size of the duplication region and the severity of the symptoms.
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