25
Dec
CDO Winter 2023 Newsletter
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CDO Winter 2023 Newsletter now available! The CDO newsletter includes a family spotlight, additional resources, media corner and Ask the Doctor. Additionally, new research synopses, such as the following on 9p deletion, are detailed in each issue – 9p deletion syndrome is a rare autosomal dominant disorder characterized by a... Read More
17
Jan
Risk factors of clinical dysimmune manifestations in children with 22q11.2 deletion syndrome
Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France 22q11.2 deletion syndrome is one of the most common microdeletion syndromes. Patients with this syndrome have a higher risk of infections, autoimmune diseases, and allergies. Deletions that include the... Read More
30
Jan
22q11.2 deletion and often overlooked orthopedic manifestations a review
22q11.2 deletion and often overlooked orthopedic manifestations a review. 22q11.2 deletions – caused by a deletion within the long arm of chromosome 22 – are one of the most common microdeletion syndromes. Orthopedic issues (relating to the bones or muscles) are common in patients with 22q11.2 deletions, with cervical spine... Read More
