Cardiac phenotype in the chromosome 22q11.2 microdeletion syndrome

Progress in Pediatric Cardiology

Volumn 15, Issue 2, 2002, Pages 119-123

  Earing, Michael ^a   Ackerman, Michael J ^a   Driscoll, David J ^a  

^a MAYO CLINIC   (United States)

Author keywords

Chromosome 22q11 deletion; Congenital heart disease; Conotruncal anomaly face syndrome; DiGeorge syndrome; Velocardiofacial syndrome

Indexed keywords

AORTA ARCH ANOMALY; APLASIA; ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DIGEORGE SYNDROME; FACE MALFORMATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASIA; INCIDENCE; LEARNING DISORDER; PALATE MALFORMATION; PARATHYROID GLAND; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SYNDROME CHARGE; THYMUS; VELOCARDIOFACIAL SYNDROME;

EID: 0036069941     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1058-9813(02)00036-X     Document Type: Article

References (37)

1. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
2. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
3. Frequency of a 22q11 deletion in patents with conotruncal cardiac malformations: A prospective study
4. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study
5. Latent hypoparathyroidism in children with conotruncal cardiac defects
6. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
7. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
8. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions-A review
9. A deletion in chromosome 22 can cause DiGeorge syndrome
10. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
11. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
12. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
13. Detection of mirodeletions of 22q11.2 with fluorescence in situ hybridization (FISH): Diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial syndrome, CHARGE association and conotruncal cardiac malformations
14. Cayler cardiofacial syndrome and del 22q11: Part of the CATCH 22 phenotypes
15. Autosomal dominant 'Opitz' GBBB syndrome due to a 22q11.2 deletion
16. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial: Implications for genetic counseling and prenatal diagnosis
17. The velo-cardio-facial syndrome: A clinical and genetic analysis
18. Cardiac malformations in the velocardiofacial syndrome
19. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
20. Velo-cardio-facial syndrome: A review of 120 patients
21. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenic factor
22. The DiGeorge anomaly as a developmental field defect
23. DiGeorge anomaly and velocardiofacial syndrome
24. Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician
25. Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22)
26. Neural crest cells contribute to normal aorticopulmonary septation
27. Plasticity and predetermination of mesecephalic and trunk neural crest transplanted into the region of the cardiac neural crest
28. Neural crest and cardiovascular patterning
29. Effect of neural crest ablation on development of the heart and arch arteries in the chick
30. VCFS associated with ventricular septal defect, pulmonary, and hypoplastic pulmonary arteries
31. Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness
32. Study on the mode of inheritance in del 22q11 (abstract)
33. Deletions within chromosome 22q11 in familial congenital heart disease
34. Frequency of 22q11 deletions in patients with conotruncal defects
35. A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: No evidence for deletions in non-syndromic patients
36. Microdeletion 22q11 in complex cardiovascular malformations