17q12 CNVs

It has been very rewarding to see the 17q12 Foundation grow and expand to continue bringing awareness and resources to 17q12 families, and we are honored to be working with you in research, clinical care, and advocacy efforts. 

PRISMA STUDY 17q12 - Daniel Moreno De Luca

17q12 PRISMA Research

This project at Bradley Hospital, Hasbro Children’s Hospital, and Brown University is looking to understand how genetic information, specifically rare genetic changes, of people with autism and other neurodevelopmental and psychiatric conditions can inform healthcare. We want to see how genetic results could be used in the future to inform medication choice, behavioral interventions, educational interventions, and identification and treatment of other medical conditions that may impact mental health. We will be enrolling individuals with autism or other neurodevelopmental or psychiatric conditions for whom a genetic variant has been identified as the underlying cause, such as 17q12 CNVs.

Books

17q12 Publications

Looking for cutting edge information about 17q12 CNVs? Keep up to date with the latest studies from our group and others here.

PRISMA Newlsetter 17q12 - Daniel Moreno De Luca

17q12 Newsletter- Foundation 

In this edition, we’ll get a chance to review some of the facts around 17q12 CNVs (including deletions and duplications, to learn about resources for the 17q12 community, and to read about the achievements of the 17q12 Foundation members.

 

Although this newsletter does not provide individual medical advice, please feel free to take it with you to share this information and resources with your healthcare team or community as a way of letting them know more about 17q12 CNVs

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17q12 Clinical Resources Guide

Do you know of other resources? Send us an email at chromosome17q12@gmail.com and we’ll add them.

PRISMA Research Group - Daniel Moreno De Luca

How are 17q12 CNVs diagnosed?

Families arrive at a diagnosis in one of many ways: they may go to see their doctors because of developmental or psychiatric conditions, or because of issues with their kidneys or abnormal blood sugar levels. Doctors can then perform several tests, including genetic testing, where the 17q12 CNVs are revealed. 

PRISMA Research Group - 17q12 Infographic- Daniel Moreno De Luca

What are 17q12 CNVs?

17q12 deletion syndrome and 17q12 duplication syndrome.  Both syndromes involve the genes on the long arm (q arm) chromosome 17 at position 12 (one-two). Although the same piece of chromosome is affected in both syndromes, these are two different syndromes with separate symptoms and features.  

 

 

 

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International 17q12 Family
Conference Photo Gallery

* A special thanks to Rick Guidotti from Positive Exposure for working with us in this 17q12 conference and sharing his talent creating portraits of the families, friends, doctors and volunteers in these two days

Click on the photos to see the gallery

Event Photos

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Click on the photos to see the gallery

Positive Exposure

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