What is dup15q syndrome?
Dup15q Syndrome is 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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Ciitizen Research Opportunity Dup15q Alliance has been presented with a new opportunity provided by Invitae, a leading medical genetics company, through their health data platform, Ciitzen. This platform will not only rapidly provide you YEARS' worth of your child's...
Ask Congress to take action on the Safe Step Act! The Safe Step Act requires insurers to implement a clear and transparent process for a patient or physician to request an exception to a step therapy protocol. Currently, when a physician prescribes a particular drug...
Consortium for Autism, Neurodevelopmental Disorders & Digestive Diseases (CANDID) is a collaboration between patient advocacy groups, scientists, clinicians, and research organizations that is focused on addressing gastrointestinal dysfunction in patients with...
Meet Our Families
My wife, Adrienne, and I were married in 1992 and decided to wait to have kids. Instead, we focused on education, careers and enjoying the freedom that comes with having no kids. Taking days long hiking/camping trips, going to Las Vegas on a whim or going on a drive...
Richie and I met on a blind date when I was 17 years old. We dated for 6 years before we got married and we immediately found ourselves pregnant with our now 21-year-old son, Jared. I always knew I wanted at least 2 children but we just couldn’t seem to make it...
How Time Flies…. I remember writing my first article about Marlena and the problems we were encountering. Marlena is now 21 and in a residential group home on a school campus in Oconomowoc, Wisc. She is smiling and developing her independence even during...
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).