What is dup15q syndrome?
Dup15q Syndrome is a neurodevelopmental disorder characterized by having an extra copy of a portion of chromosome 15 in the 11.2 – 13.1 region in combination with a number of symptoms that may include hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy, including infantile spasms.
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LADDER Database Family-friendly Reports LADDER shares de-identified information (which means it cannot be traced back to you or your family) from the LADDER database with approved researchers. When research projects using LADDER data result in publications, we share...
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact Commission on Novel Technologies for Neurodevelopmental Copy Number Variant Dup15q Alliance is proud to be one of...
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody Published on Spectrum News: https://doi.org/10.53053/DBMO3214For the past two decades, autism researchers have tried to dissect autism’s vast diversity by...
Meet Our Families
Sharing your family story is one of the greatest gifts you can give. Your story is vital to raising awareness, understanding, and compassion, as it helps people feel connected and impacted. You are an empowered activist changing the future!
Before having kids I was a bit of a dancer and actor I really enjoyed performing. I meet my husband Chris in my first year out of school when we were 19, this year we have been together for 22 years. Chris and I enjoyed traveling Europe and parts of Australia, before...
I’m a single mum to 6 kids. Nathan being my youngest. Normal pregnancy no issues or concerns. He was born perfect. So blessed he’s a part of our family. We couldn’t imagine life without him now. He was diagnosed at 4 months old. He was not meeting milestones. Very...
This site is intended to provide basic educational information about chromosome 15q11.2-13.1 duplication syndrome. It is not intended to, nor does it, constitute medical or other advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the information on this website or bulletin board without first consulting a physician. Dup15q Alliance does not promote or recommend any treatment, therapy, institution, or health care plan.
The information contained in this site is intended for your general education and information only and not for use in pursuing any treatment or course of action. Ultimately, the course of action in treating a given patient must be individualized after a thorough discussion with the patient’s physician(s).