Cervical aortic arch associated with 22q11.2 deletion

Pediatric Cardiology

Volumn 18, Issue 2, 1997, Pages 149-151

  Kazuma, N ^a   Murakami, M ^a   Suzuki, Y ^a   Umezu, R ^a   Murata, M ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

22q11.2 deletion; CATCH 22 syndrome; Cervical aortic arch

Indexed keywords

ADOLESCENT; AORTA ARCH ANOMALY; AORTOPULMONARY SEPTAL DEFECT; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LUNG ATRESIA; MALE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AORTA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; SYNDROME;

EID: 0031058909     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002469900138     Document Type: Article

References (7)

1. Burn J, Takao A, Wilson D, et al (1993) Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30:822-824
2. Giannotti A, Digilio MC, Marino B, et al. (1994) Cayler cardiofacial syndrome and del 22q11: part of the CATCH 22 phenotype. Am J Med Genet 53:303-304
3. Haughton VM, Fellows KE, Rosenbaum AE (1975) The cervical aortic arches. Radiology 114:675-681
4. Kazama Y, Miyazawa S, Yamada M, et al (1980) A case of right cervical aortic arch. Review of the previous cases. Heart 12:665-673 (in Japanese)
5. Matsuoka R, Takao A, Kimura M, et al (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2. Am J Med Genet 53:285-289
6. Reid DG (1914) Three examples of a right aortic arch. J Anat Physiol 48:174-181
7. Wilson DI, Burn J, Scambler P, Goodship J (1993) DiGeorge syndrome: part of CATCH 22. J Med Genet 30:852-856