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Familial absent pulmonary valve syndrome without deletions of chromosome 22q11

Published online by Cambridge University Press:  19 August 2008

Doff B. McElhinney ,
Frank L. Hanley  and
Paul Stanger
Doff B. McElhinney*
Affiliation:
Divisions of Cardiothoracic Surgery and Pediatric CardiologyUniversity of CaliforniaSan Francisco CA, USA
Frank L. Hanley
Affiliation:
Divisions of Cardiothoracic Surgery and Pediatric CardiologyUniversity of CaliforniaSan Francisco CA, USA
Paul Stanger
Affiliation:
Divisions of Cardiothoracic Surgery and Pediatric CardiologyUniversity of CaliforniaSan Francisco CA, USA
*
Doff B. McElhinney, MD, Children's Hospital of Philadelphia, 34th Street and Civic Center Bivd, Rm 9557, Philadelphia, PA 19104, USA. Tel: (215)590-1000; Fax: (215)590-2768
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Abstract

Deletions of chromosome 22q11 are common in patients with tetralogy of Fallot, and in those with absent pulmonary valve syndrome. In this report, we describe a pair of siblings with absent pulmonary valve syndrome, neither of whom had deletions of chromosome 22q11. The finding of familial absent pulmonary valve syndrome without deletion of 22q11 in our patients suggests an alternative genetic basis for this rare condition.

Keywords

Chromosome 22DiGeorge syndrometetralogy of Fallot
Type
Original Articles
Information
Cardiology in the Young , Volume 10 , Issue 6 , November 2000 , pp. 618 - 620
Copyright
Copyright © Cambridge University Press 2000

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