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S. Pichugina

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Open access Sep 2026

Case of late diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) in a patient with chronic nonspecific lung diseases

   Introduction. DiGeorge syndrome (22q11.2 deletion) is a genetic disorder characterized by wide phenotypic polymorphism. Its main manifestations include congenital heart defects, immunodeficiency due to thymic hypoplasia, and hypocalcemia resulting from parathyroid gland dysfunction. High variability of clinical c...

S. Pichugina, G. Evseeva, O. A. Genova et al. · 0 citations

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