17q12 CNVs

This project at University of Alberta, Alberta Health Service and CASA mental health is enrolling children and adults who have had diagnostic genetic testing that showed a deletion or a duplication in chromosome 17q12 to understand how genetics can impact their 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. 

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

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

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. 

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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.