The Clinical Genetics Unit of the Pediatric Medicine Service deals with the increasingly recognized disorders or diseases with a genetic basis, that is to say, that have as their primary cause alterations in chromosomes or genes (which manifest as intellectual deficits, dysmorphies or generalized malformations, etc.)
The Unit is a reference point for some of these diseases, such as Angelman's syndrome, Prader-Willi's syndrome and X-fragile syndrome.
Presentation
