Results for 22q Deletion Syndrome

Dr. Mascarenhas is director of the Nutrition Support Service, section chief of nutrition in the Division of Gastroenterology and Nutrition, medical director of the Clinical Nutrition Department, and director of the Integrative Health Program. Her research interests involve 22q deletion syndrome, cystic fibrosis, nutrition, and integrative medicine.

Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.