22q11.2 deletion syndrome (22q11DS), also known as DiGeorge or velocardiofacial syndrome, may include significant ocular manifestations. Ophthalmic issues are common in individuals with 22q11DS, though their severity can vary significantly.…
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“What’s New in 22q”, a podcast produced by Stephan Eliez for 22q11 Europe, is now available on our YouTube channel. This podcast explores the many dimensions of 22q11 syndrome through…
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The wide-ranging symptoms 2q11.2 Deletion Syndrome (22q11.2DS) presents can include fatigue and muscle hypotonia, significantly impacting an individual’s quality of life and development. Fatigue Fatigue is a commonly reported and…
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Nutrition, Growth, and Endocrinological Issues in 22q11.2 Deletion Syndrome The deletion of a small segment of chromosome 22 at the q11.2 location, which is what causes 22q11.2 deletion syndrome, also…
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Are you a researcher or a clinician working in the field of 22q11.2 deletion syndrome? 22q11 Europe has been created by fourteen 22q11 national associations around Europe. The goal of…
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Among its broad spectrum of clinical manifestations, 22q11DS often includes musculoskeletal problems, with orthopaedic and spinal issues, such as scoliosis. These orthopaedic problems can have a significant impact on mobility,…
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ENT and Audiology Issues in 22q11.2 Deletion Syndrome 22q11.2 deletion syndrome (22q11DS), also known as DiGeorge syndrome, may include issues related to the ears, nose, and throat (ENT) as well…
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Cardiovascular Issues in 22q11.2 Deletion Syndrome (22q11DS) 22q11.2 deletion syndrome (22q11DS), the genetic disorder caused by a microdeletion on chromosome 22, presents with a wide range of clinical manifestations, including…
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Dentistry Issues in 22q11.2 Deletion Syndrome Among the health issues associated with 22q11.2 deletion syndrome (aka DiGeorge syndrome), dental problems are frequently observed, and they can significantly impact the quality…
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The 22q11 European Solidarity Movement was held across Europe on November 22, 2024. As every year, November 22 marked 22q11 Day, a great opportunity to raise awareness among the general…
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