title: [Di George syndrome: not always a pediatric diagnosis].
abstract: We describe a delayed diagnosis of Di George syndrome, in a 51 yr-old woman, with past medical history of epilepsy, mental retardation, chronic psychosis, nephrocalcinosis. She presented facial dysmorphism, multiple encephalic calcifications, hypocalcemia and lymphopenia. A microdeletion of 22q 11.2 was detected by fluorescence in situ hybridization (FISH), confirming the clinical suspicion .
authors.affiliation: Azienda Ospedaliera G.Salvini, Milano. giorgio.bertola62@gmail.com
authors.forename: Giorgio
authors.initials: G
authors.lastname: Bertola
authors.forename: Salvatore
authors.initials: S
authors.lastname: Giambona
authors.forename: Roberto
authors.initials: R
authors.lastname: Bianchi
authors.forename: Andrea
authors.initials: A
authors.lastname: Girola
authors.forename: Sergio Antonio
authors.initials: SA
authors.lastname: Berra
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology; D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging / Q000209:etiology; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure; D057210:Delayed Diagnosis; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000523:psychology; D004827:Epilepsy / Q000209:etiology; D005260:Female; D006579:Heterozygote; D006801:Humans; D006996:Hypocalcemia / Q000188:drug therapy / Q000209:etiology; D007011:Hypoparathyroidism / Q000209:etiology; D008607:Intellectual Disability / Q000209:etiology; D008875:Middle Aged; D011618:Psychotic Disorders / Q000209:etiology; D011859:Radiography