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Two sides of the same coin
Manage episode 278724963 series 2822642
Sisällön tarjoaa Chris. Chris tai sen podcast-alustan kumppani lataa ja toimittaa kaiken podcast-sisällön, mukaan lukien jaksot, grafiikat ja podcast-kuvaukset. Jos uskot jonkun käyttävän tekijänoikeudella suojattua teostasi ilman lupaasi, voit seurata tässä https://fi.player.fm/legal kuvattua prosessia.
This episode discusses two children - one of whom I saw as a floppy baby on the neonatal unit. She turned out to have a condition known as Prader Willi syndrome and I discuss what this condition is. I also describe a little boy who I met because of his difficult to treat epilepsy - he had a neurological disorder called Angelman syndrome. These two conditions are both due to a loss of genetic material from one chromosome (chromosome 15) but these completely different conditions arise depending on whether the father's or the mother's DNA is missing. I also discuss a complication of the epilepsy which can occur in Angelman syndrome - a problem called non-convulsive status epileptics.
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