Zespoły Emanuel i DiGeorge'a: różnice kliniczne i genetyczne na podstawie analizy dwóch przypadków

Emanuel syndrome is a rare congenital condition affecting the function of many organs and disrupting the child's regular development. Similarly to the Emanuel syndrome, the DiGeorge syndrome has a genetic background and has a heterogeneous phenotype. Both are associated with the disorders of the chromosome 22, but their nature is different: in the Emanuel syndrome an incomplete trisomy occurs, while in the DiGeorge syndrome microdeletion of a part of a chromosome occurs. Interpretation of the results of molecular analyses can sometimes be difficult. We present the cases of two children: a five-year-old girl with Emanuel syndrome and a boy with DiGeorge syndrome who is now ten.