Size of 22q13 Deletion Predicts Clinical Features

In a study of people missing an autism-linked region on chromosome 22, researchers have found that the larger the deletion, the more likely the individual is to have severe symptoms, from motor and speech delays to a large head and fleshy hands.The study, published 7 October in the Journal of Medical Genetics, analyzed individuals with the rare Phelan-McDermid syndrome, caused by deletions of various sizes in the chromosomal region 22q13. The syndrome is characterized by a wide array of symptoms, often including autism or some traits of the disorder.Read more at...SFARI, November 2011.