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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February 28, 2023 is the designated “Rare Disease Awareness Day” across the world. Dup15q Syndrome is 1 of 7,000 Rare Diseases. 1 in 20 people will be diagnosed with a rare disease at some point in their life. Despite this, there is no cure for the majority and many...
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...
Meet Our Families
My husband Matt and I have been married for 23 years. We live in the western suburbs of Chicago with our kids Ava, Ella, and Peter and dog Hank. I have worked in labor and delivery for 20 years as a surgical technician. Matt is an employee benefits consultant and a...
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...
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).