PMID- 23535960
OWN - NLM
STAT- MEDLINE
DCOM- 20130627
LR  - 20161125
IS  - 0034-1193 (Print)
IS  - 0034-1193 (Linking)
VI  - 104
IP  - 2
DP  - 2013 Feb
TI  - [Di George syndrome: not always a pediatric diagnosis].
PG  - 69
LID - 10.1701/1241.13707 [doi]
AB  - 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 .
FAU - Bertola, Giorgio
AU  - Bertola G
AD  - Azienda Ospedaliera G.Salvini, Milano. giorgio.bertola62@gmail.com
FAU - Giambona, Salvatore
AU  - Giambona S
FAU - Bianchi, Roberto
AU  - Bianchi R
FAU - Girola, Andrea
AU  - Girola A
FAU - Berra, Sergio Antonio
AU  - Berra SA
LA  - ita
PT  - Case Reports
PT  - Journal Article
TT  - Sindrome di Di George: una diagnosi non sempre pediatrica.
PL  - Italy
TA  - Recenti Prog Med
JT  - Recenti progressi in medicina
JID - 0401271
SB  - IM
MH  - Abnormalities, Multiple/etiology
MH  - Brain Diseases, Metabolic/diagnostic imaging/etiology
MH  - Calcinosis/diagnostic imaging/etiology
MH  - Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/ultrastructure
MH  - *Delayed Diagnosis
MH  - DiGeorge Syndrome/*diagnosis/genetics/metabolism/psychology
MH  - Epilepsy/etiology
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Hypocalcemia/drug therapy/etiology
MH  - Hypoparathyroidism/etiology
MH  - Intellectual Disability/etiology
MH  - Middle Aged
MH  - Psychotic Disorders/etiology
MH  - Radiography
EDAT- 2013/03/29 06:00
MHDA- 2013/06/29 06:00
CRDT- 2013/03/29 06:00
PHST- 2013/03/29 06:00 [entrez]
PHST- 2013/03/29 06:00 [pubmed]
PHST- 2013/06/29 06:00 [medline]
AID - 10.1701/1241.13707 [doi]
PST - ppublish
SO  - Recenti Prog Med. 2013 Feb;104(2):69. doi: 10.1701/1241.13707.