Chromosome 15

Over spring break I ventured to Charleston, SC for the first time with a friend. Just as I had been told a million times, it was absolutely gorgeous. One morning we went to a restaurant that was known for its day long brunch along with its endless mimosas. I’m not sure how we got on the subject but somehow we started talking to our waitress about where she was from. She was a recent grandmother of two children and one was just diagnosed with Angelman syndrome. None of us were familiar with the term so of course I had to look it up when I got back. 

Angelman syndrome is a genetic disorder that was named after Dr. Harry Angelman who was the first to describe several children as having similar characteristics in 1965. The children were all described as having jerky movements, were speechless, suffered from seizures, and had excessive laughter. He originally named the children as “puppet children” after seeing a piece of art titled “A Boy with a Puppet” that reminded him of the children. The Angelman name was attributed to the symptoms in the 80s after it was compared to Prader-Willi syndrome. A problem in the maternally derived chromosome 15 results in Angelman syndrome while a problem in the paternally derived chromosome 15 results in the similar Prader-Willi syndrome. 

Source

Genetic epidemiology has grown since the human genome project. It is now a little easier to determine the number of individuals who have genetic disorders that may have been improperly diagnosed in the past. In North America, most known Angelman syndrome cases are of those of Caucasian descent but the exact incidence rate is not known. There is an estimated prevalence of children and young adults with Angelman syndrome between 1/10,000 and 1/20,000. The unknown may be due to the fact that children are not diagnosed until development issues appear or misdiagnosed with autism or other syndromes. (Source) 

KR