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. If you or your family member has been diagnosed with a 17q12 deletion or duplication, please contact Stefanie Turner at firstname.lastname@example.org or 570-214-0168 for more information about how to participate in our ongoing research studies. 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.
On June 26 & 27, 2015, genetics and medical specialists from Geisinger Health System hosted the second annual family meeting on 17q12 deletions and duplications in Philadelphia, PA. See below for the presentations from recent family meetings as well as links to recent newsletters.
- 17q12 Newsletter: Spring 2017 (pdf)
- 17q12 Newsletter: Fall 2016 (pdf)
- 17q12 Newsletter: Fall 2015 (pdf)
- 17q12 Newsletter: Spring 2015 (pdf)
- 17q12 Newsletter: Fall 2014 (pdf)
- Overview of the Genetics and Clinical Characteristics of 17q12 Deletions and Duplications, Brenda Finucane, MS, LGC (pdf)
- Psychotropic Medication Management in Neurodevelopmental Disabilities, Scott Myers, MD (pdf)
- Monogenic Diabetes in 17q12, Sara Pinney, MD (pdf)
- Effective Strategies for Social Skills Development at Home and School, Barbara Haas-Givler, MEd, BCBA (pdf)
- 17q12 Research Update, Missy Slane, MS & Antoinette DiCriscio, PhD (pdf)
- Genetics of the 17q12 Region, Christa Lese Martin, PhD (pdf)
- Overview of Clinical Symptoms of 17q12 Deletions & Duplications, Daniel Moreno de Luca, MD, MSc (pdf)
- Renal Symptoms and Medical Follow-up, Jamie Alton Green, MD, MS (pdf)
- Making Sense of Genetic, Educational, and Psychiatric Diagnoses, Brenda Finucane, MS, LGC (pdf)
- 17q12 Research Opportunities through ADMI, David W. Evans, PhD & Mylissa Slane, MS (pdf)
- Treatment of Children with Developmental Disorders: Science, Non-science, and Nonsense, Thomas D. Challman, MD (pdf)
- Resources and Strategies for Children with Complex Communication Needs, Marissa W. Mitchel, MS, CCC-SLP (pdf)
- Understanding the Basics of Behavioral Intervention, Barbara Haas-Givler, MEd, BCBA (pdf)