Literature DB >> 23535960

[Di George syndrome: not always a pediatric diagnosis].

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 .

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Year:  2013        PMID: 23535960     DOI: 10.1701/1241.13707

Source DB:  PubMed          Journal:  Recenti Prog Med        ISSN: 0034-1193


  2 in total

Review 1.  22q11 deletion syndrome: current perspective.

Authors:  Bülent Hacıhamdioğlu; Duygu Hacıhamdioğlu; Kenan Delil
Journal:  Appl Clin Genet       Date:  2015-05-18

2.  Mood disorder as a manifestation of primary hypoparathyroidism: a case report.

Authors:  Regis G Rosa; Alcina J S Barros; Antonio R B de Lima; William Lorenzi; Rafael R Da Rosa; Karine D Zambonato; Gustavo V Alves
Journal:  J Med Case Rep       Date:  2014-10-03
  2 in total

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