Children and adults who have a 17q12 deletion are missing a small section of genetic material from one copy of their number 17 chromosomes, while those with a 17q12 duplication have an extra section of genetic material in the same region. This section of chromosome 17 contains several genes that are known to cause symptoms when they are deleted or duplicated. People with 17q12 deletions are at risk for developmental and language delays, autism spectrum disorder, mental illness, motor coordination issues, kidney problems, and a specific type of diabetes. We know less about the behavioral and health characteristics associated with 17q12 duplications. Not every person with a 17q12 deletion or duplication will experience the same symptoms, and some people may not notice obvious effects.

As researchers and health care providers at Geisinger’s Autism & Developmental Medicine Institute (ADMI), we are interested in better understanding the behavioral, developmental, and medical characteristics associated with extra or missing material in the 17q12 chromosomal region. Your participation helps increase our knowledge about 17q12 deletions and duplications, with the goal of improving the lives of affected individuals and their families. You may also be interested in registering with the 17q12 Interest Group.

Join a study

Stefanie Turner

sturner5@geisinger.edu

570-214-0168