PMID- 22397049
OWN - NLM
STAT- MEDLINE
DCOM- 20120405
LR  - 20120308
IS  - 0041-4301 (Print)
IS  - 0041-4301 (Linking)
VI  - 54
IP  - 1
DP  - 2012 Jan-Feb
TI  - Prenatally diagnosed case of 22q11.2 deletion syndrome associated with pulmonary 
      artery aneurysm.
PG  - 74-6
AB  - Here, we report a new case with chromosome 22q11 deletion and cardiac anomaly 
      diagnosed prenatally by echocardiography. Fluorescence in situ hybridization 
      (FISH) analysis demonstrated a heterozygous deletion at 22q11.2. Echocardiography 
      revealed ventricular septal defect, pulmonary atresia, and aneurysm of the main 
      pulmonary artery and its branches. Pulmonary artery aneurysm (PAA) is rarely seen 
      in patients with 22q11.2 deletion syndrome (22qDS). In this case, PAA was found 
      by prenatal echocardiographic examination at the 25th week of gestation. To date, 
      no prenatally diagnosed case of 22qDS with PAA has been reported. This is the 
      first 22qDS case with PAA that was detected prenatally by FISH analysis.
FAU - Ozer, Leyla
AU  - Ozer L
AD  - Mikrogen Genetic Diagnosis Center, Ankara, Turkey.
FAU - Lembet, Arda
AU  - Lembet A
FAU - Ugurlu, Nil
AU  - Ugurlu N
FAU - Baltaci, Volkan
AU  - Baltaci V
FAU - Balci, Sevim
AU  - Balci S
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Turkey
TA  - Turk J Pediatr
JT  - The Turkish journal of pediatrics
JID - 0417505
SB  - IM
MH  - Aneurysm/*diagnosis/genetics
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/diagnosis/*genetics
MH  - Female
MH  - Heart Septal Defects, Ventricular/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Pulmonary Artery/*abnormalities
MH  - Pulmonary Atresia/diagnosis/genetics
MH  - Ultrasonography, Prenatal
MH  - Young Adult
EDAT- 2012/03/09 06:00
MHDA- 2012/04/06 06:00
CRDT- 2012/03/09 06:00
PHST- 2012/03/09 06:00 [entrez]
PHST- 2012/03/09 06:00 [pubmed]
PHST- 2012/04/06 06:00 [medline]
PST - ppublish
SO  - Turk J Pediatr. 2012 Jan-Feb;54(1):74-6.