Association of a mosaic chromosomal 22q11 deletion with hypoplastic left heart syndrome

American Journal of Cardiology

Volumn 77, Issue 11, 1996, Pages 1023-1025

  Consevage, Michael W ^a   Seip, James R ^a   Belchis, Deborah A ^a   Davis, Abby T ^a   Baylen, Barry G ^a   Rogan, Peter K ^a,b  

^a PENN STATE COLLEGE OF MEDICINE   (United States)

^b PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CATCH 22 SYNDROME; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; FACE MALFORMATION; FATALITY; FEMALE; HUMAN; HUMAN TISSUE; HYPOPLASTIC LEFT HEART SYNDROME; MULTIPLE ORGAN FAILURE; NEWBORN; PRIORITY JOURNAL;

EID: 0029952699     PISSN: 00029149     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9149(97)89165-5     Document Type: Article

References (4)

1. Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH 22. J Med Genet 1993;30:852-856.
2. Melchionda S, Digilio MC, Mingarelli R, Novelli G, Scambler P, Marino B, Dallapiccola B. Transposition of the great arteries associated with deletion of chromosome 22q11. Am J Cardiol 1995;75:95-98.
3. Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin. Br Heart J 1991;66:308-312.
4. Bernards A, Gusella JF. The importance of genetic mosaicism in human disease. N Engl J Med 1994;331:1447-1449.