Potocki-Lupski syndrome is a genetic disease that occurs as a result of the duplication of a small part of chromosome 17, specifically its short arm at position p11.2. Patients have slow development, hypotonia, feeding problems, and some enter the autistic spectrum. The disease is inherited in an autosomal dominant manner, but most patients are the result of a "de novo" mutation. The duplication for…

We get to know the rare diseases: Potocki-Lupsky syndrome Read More »