17
Jan
Risk factors of clinical dysimmune manifestations in children with 22q11.2 deletion syndrome
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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
17
Jan
Genotypic and phenotypic variability of chromosome 22q11.2 microduplications
Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience 22q11.2 region is rich in low copy repeats (large repetitive blocks of DNA that are similar to each other), which makes the region prone to both deletions and duplications during meiosis. Deletions of 22q11.2 are very common. Microduplications of this... Read More
