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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Estimated Prevalence

1:5,000-20,000

Number of Programs

24

Dollars to Research

Over $900,000

Number of Clinics

16

Upcoming Events

Lastest News

2023 Lucas T. Ahn Family Scholarship Recipient

Congratulations to Nadia Wallace, an undergraduate working in Dr. Lawrence T. Reiter’s lab, on being the second recipient of the Lucas T. Ahn Family Scholarship! "At the Neurology department of UTHSC in Dr. Reiter's lab, I dedicate my time to finding possible UBE3A...

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Dup15q Clinical Trial Locations Open

NEW US Dup15q Clinical Trial Location Open: Children's Hospital Los Angeles.  Interested in enrolling at CHLA? Contact  nagonzalez@chla.usc.edu Also Enrolling at  Rush University Medical Center. Interested in Enrolling? Contact  Margaret_R_Porwit@rush.edu For General...

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Meet Our Families

Share Your Family Story!

Share Your Family Story!

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!   

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Blog Spot – Super Duper Coral

Blog Spot – Super Duper Coral

Coral and Our Family Our daughter, Coral, was born on July 28th, 2016.  Three days later she stopped breathing.  After numerous tests that returned as “normal”, the genetic testing report showed that she had a rare chromosomal duplication, Dup 15q.  Dup 15q is...

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Reid – Family Story

Reid – Family Story

Hi Kelly & Adam, we’d love for you to start by introducing yourself. Our son Reid was diagnosed with Dup15q Syndrome in July 2021. He was 2.5 years old and we finally had an answer after about a year of knowing that something wasn’t quite right. The genetic test...

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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).