| Literature DB >> 23535960 |
Giorgio Bertola1, Salvatore Giambona, Roberto Bianchi, Andrea Girola, Sergio Antonio Berra.
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 .Entities:
Mesh:
Year: 2013 PMID: 23535960 DOI: 10.1701/1241.13707
Source DB: PubMed Journal: Recenti Prog Med ISSN: 0034-1193