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22q11 Deletion Syndrome was only identified in the 1970s and while great advancements have been made in the care of people with 22q11, there is still much to learn. 22q11 Ireland works with medical, educational and research professionals to advance our understanding of the condition and its symptoms.
22q11 Deletion Syndrome occurs when a tiny piece of the long arm of one of two copies of chromosome 22 is missing at position 11. But although that deletion may be microscopic, it causes a ripple effect of symptoms and challenges that can impact a person’s health, including issues with the heart, palate, immune system, thyroid, among others. About 75% of children with 22q11 will be born with heart problems, some of which may need medical intervention as soon as the child is born. As children with 22q11 grow, the deletion often causes developmental delays, learning disabilities and mental health challenges, some of which can be debilitating.
To help mitigate the problem of coordinating care for a syndrome with 180 symptoms, 22q11 Ireland is collaborating with health professionals and the HSE to develop an integrated care clinic. If you would like to learn more about this clinic here, contact us.
On a day-to-day level, we collate academic research, highlight medical advancements and provide vital information for medical professionals, which can be accessed through the below portal.