title: Persistent fifth aortic arch associated with 22q11.2 deletion syndrome.
abstract: BACKGROUND
  Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent fifth aortic arch.
  
  
  METHODS
  Four patients with persistent fifth aortic arch treated between July 1997 and June 2004 were included in this retrospective study. There were two girls and two boys, aged 2 days to 11.3 years, with persistent fifth aortic arch and cardiac conotruncal malformations. Chart recordings, plain chest films, two-dimensional and Doppler echocardiograms, cardiac catheterization with angiograms, surgical findings, and cytogenetic study were analyzed.
  
  
  RESULTS
  Clinically, all four patients had the cardinal phenotypic features of 22q11.2 deletion syndrome, including cardiovascular malformations (conotruncal malformations and aortic arch anomalies), abnormal facies, thymic hypoplasia, canopy anomaly of the palate (high-arched palate, rather than cleft palate), and hypocalcemia (or hypoparathyroidism). All four patients were confirmed to have chromosome 22q11.2 deletion.
  
  
  CONCLUSIONS
  Congenital conotruncal malformations, including tetralogy of Fallot with pulmonary atresia or stenosis, and aortic arch anomalies including a persistent fifth aortic arch or a right aortic arch, should lead to suspicion of chromosome 22q11.2 deletion when manifested together with any one of the other four cardinal phenotypic features.
authors.affiliation: Division of Pediatric Cardiology, Department of Pediatrics, Changhua Christian Hospital, Changhua, Taiwan. ferdielee@yahoo.com
authors.forename: Meng-Luen
authors.initials: ML
authors.lastname: Lee
authors.forename: Hsiao-Neng
authors.initials: HN
authors.lastname: Chen
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Lon-Yen
authors.initials: LY
authors.lastname: Tsao
authors.forename: Bao-Tyan
authors.initials: BT
authors.lastname: Wang
authors.forename: Mei-Hui
authors.initials: MH
authors.lastname: Lee
authors.forename: Ing-Sh
authors.initials: IS
authors.lastname: Chiu
mesh_terms: D001013:Aorta, Thoracic / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D013577:Syndrome