A genetic etiology for interruption of the aortic arch type B

American Journal of Cardiology

Volumn 80, Issue 4, 1997, Pages 493-497

  Lewin, Mark B ^a   Lindsay, Elizabeth A ^a   Jurecic, Vesna ^a   Goytia, Veronica ^a   Towbin, Jeffrey A ^a   Baldini, Antonio ^a  

^a Dept Pediat Texas Children's H ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA ANOMALY; ARTICLE; CHROMOSOME 22Q; DIGEORGE SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC DISORDER; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SOUTHERN BLOTTING;

AORTA, THORACIC; BLOTTING, SOUTHERN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DNA PROBES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE;

EID: 0030768896     PISSN: 00029149     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9149(97)00401-3     Document Type: Article

References (23)

1. Morriss MJ, McNamara DG. Coarctation of the aorta and interrupted aortic arch. Garson A, Bricker JT, McNamara DG. The Science and Practice of Pediatric Cardiology. 1990;1373-1376 Lea & Febiger, Philadelphia.
2. Kirby ML, Waldo KL. Role of neural crest in congenital heart disease. Circulation. 82:1990;332-340.
3. Brockman DE, Redmond ME, Kirby ML. Alteration of early vascular development after ablation of cranial neural crest. Anat Rec. 225:1989;209-217.
4. Van Mierop LHS, Kutsche LM. Interruption of the aortic arch and coarctation of the aorta: pathogenetic relations. Am J Cardiol. 54:1984;829-834.
5. McKusick VA. DiGeorge Syndrome. McKusick VA. Mendelian Inheritance in Man. 1944;1439-1441 The John Hopkins University Press, Baltimore, MD.
6. Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11 (abstr). Am J Hum Genet. 50:1992;924-933.
7. Scambler PJ, Carey AH, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics. 10:1991;201-210.
8. Wilson DI, Cross IE, Wren C, Scambler PJ, Burn J, Goodship J. Minimum prevalence of chromosome 22q11 deletions. Am J Hum Genet. 55:((suppl)):1994;A975.
9. Lewin M, Lindsay EA, Baldini A. 22q11 deletion and cardiac disease. Prog Pediatr Cardiol. 6:1996;19-28.
10. Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A. Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics. 17:1993;403-407.
11. Halford S, Wadey R, Roberts C, Daw SCM, Whiting JA, O'Donnell H, Dunham I, Bentley D, Lindsay EA, Baldini A, Francis F, Lehrach H, Williamson R, Wilson DI, Goodship J, Cross I, Burn J, Scambler PJ. Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial heart disease. Hum Mol Genet. 2:1993;2099-2107.
12. Lindsay EA, Rizzu P, Antonacci R, Jurecic V, Delmas-Mata J, Lee C-C, Kim U-J, Scambler PJ, Baldini A. A transcription map in the CATCH22 critical region: identification, mapping and ordering of 4 novel transcripts expressed in heart. Genomics. 32:1996;104-112.
13. Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim U-J, Goodship J, Baldini A, Scambler PJ. Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome. Am J Hum Genet. 59:1996;23-31.
14. Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet. 10:1995;269-278.
15. Augusseau S, Jouk S, Jalbert P, Prieur M. DiGeorge syndrome and 22q11 rearrangements. Hum Genet. 74:1986;206-207.
16. Baldini A, Lindsay EA. Mapping human YAC clones by fluorescence in situ hybridization using Alu-PCR from single yeast colonies. Choo KHA. Methods in Molecular Biology; In Situ Hybridization Protocols. 33:1994;75-84 Human Press, Totowa, NJ.
17. Sambrook J, Fritsch EF, Maniatis T. Analysis of genomic DNA by Southern hybridization. Molecular Cloning: A Laboratory Manual. 2nd ed. 1989;9.31-9.62 Cold Spring Harbor Laboratory Press, New York.
18. Kirby ML, Gale TF, Stewart DE. Neural crest cells contribute to normal aortopulmonary septation. Science. 220:1983;1059-1061.
19. Waldo KL, Kumiski D, Kirby ML. Cardiac neural crest is essential for the persistence rather than the formation of the arch artery. Dev Dyn. 205:1996;281-292.
20. Sulik KK, Johnston MC, Daft PA, Russell WE, Dehart DB. Fetal alcohol syndrome and DiGeorge anomaly: critical ethanol exposure periods for craniofacial malformations as illustrated in an animal model. Am J Med Genet. 2:((Suppl)):1986;97-112.
21. Goulding EH, Pratt RM. Isotretinoin teratogenicity in mouse whole embryo culture. J Craniofac Genet Dev Biol. 6:1986;99-112.
22. Perry LW, Neill CA, Ferencz C, Rubin JD, Loffredo CA. Infants with congenital heart disease: the cases. Ferencz C, Rubin JD, Loffredo CA, Magee CA. Epidemiology of Congenital Heart Disease: The Baltimore-Washington Infant Heart Study 1981-1989. 1993;33-61 Futura Publishing Co., Inc, Mount Kisco, NY.
23. Johnson MC, Strauss AW, Dowton SB, Spray TL, Huddleston CB, Wood MK, Slaugh RA, Watson MS. Deletion within chromosome 22 is common in patients with absent pulmonary valve syndrome. Am J Cardiol. 76:1995;66-69.