Familial absent pulmonary valve syndrome without deletions of chromosome 22q11

Cardiology in the Young

Volumn 10, Issue 6, 2000, Pages 618-620

  McElhinney, Doff B ^a,b   Hanley, Frank L ^a   Stanger, Paul ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Chromosome 22; DiGeorge syndrome; Tetralogy of fallot

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22; CONGENITAL MALFORMATION; FALLOT TETRALOGY; FAMILY HEALTH; FEMALE; GENE DELETION; GENETICS; HUMAN; INFANT; MALE; PRESCHOOL CHILD; PULMONARY VALVE;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; FAMILY HEALTH; FEMALE; GENE DELETION; HUMANS; INFANT; MALE; PULMONARY VALVE; TETRALOGY OF FALLOT;

EID: 0034321801     PISSN: 10479511     EISSN: None     Source Type: Journal    
DOI: 10.1017/s1047951100008908     Document Type: Article

References (11)

1. th ed. Williams and Wilkins, Baltimore. 1995: 1018-1026.
2. McCaughan BC, Danielson GK, Driscoll DJ, McGoon DC. Tetralogy of Fallot with absent pulmonary valve: early and late results of surgical treatment. J Thorac Cardiovasc Surg 1985;89: 280-287.
3. Nagao GI, Daoud GI, McAdams AJ, Schwartz DC, Kaplan S. Cardiovascular anomalies associated with tetralogy of Fallot. Am J Cardiol 1967;20: 206-215.
4. 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 1995;76: 66-69.
5. Nora JJ, McGill CW, McNamara DG. Empiric risks in common and uncommon congenital heart lesions. Teratology 1970;3: 325-329.
6. Zellers TM, Driscoll DJ, Michels VV. Prevalance of significant congenital heart defects in children of parents with Fallot's tetralogy. Am J Cardiol 1990;65: 523-526.
7. Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet 1995;95: 479-482.
8. Momma K, Kondo C, Matsuoka R, Takao A. Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome. Am J Cardiol 1996;78: 591-594.
9. Takahashi K, Kido S, Hoshino K, Ogawa K, Ohashi H, Fukushima Y. Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study. Eur J Pediatr 1995; 154: 878-881.
10. Rauch A, Hofback M, Leipold G, Klinge J, Trautmann U, Kirsch M, Singer H, Pfeiffer RA. Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch. Am J Med Genet 1998;78: 322-331.
11. Horigome H, Takano T, Hirano T, Kajima T, Ohtani S. Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve. Am J Med Genet 1991;38: 608-611.