What disease

Orlando suffers from a deletion in the 2p16.3 region of the NRXN1 gene, found through Array-CGH genetic analysis.

Although such deletion involves an intronic region of the gene, i.e. the part that doesn’t encode the gene proteins, Orlando shows a clinical picture similar to the phenotype found in patients suffering from the same deletion but in esonic regions, encoding proteins of the same gene: hypotonia , psychomotor and linguistic retardation.


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