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Holt-Oram syndrome and multiple ventricular septal defects: an association suggesting a possible genetic marker?

  • Rolf G. Bennhagen (a1) and Samuel Menahem (a1)

A family is described where the father has the many skeletal, but none of the cardiac abnormalities associated with the Holt-Oram syndrome. His two daughters have similar skeletal anomalies, but with identical cardiac lesions, as does another patient, raising the possibility of an associated genetic marker.

Corresponding author
Professor S Menahem, Department of Cardiology, Royal Children's Hospital. Flemington Road, Parkville, Victoria. 3052, Australia. Tel: 61-3-9345 5715 Fax: 61-3-9345 6001.
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1. M Holt , S Oram . Familial heart disease with skeletal malformations. Br Heart J 1960;22: 236.

3. CT Basson , GS Cowley , SD Solomon , B Weissman , AK Poznanski , TA Traill , JG Seidman , CE Seideman . The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome). N Engl J Med 1994;330:1627.

4. D Bonnet , A Pelet , L Legeai-Mallet , D Sidi , M Mathieu , P Parent , H Plauchu , F Serville , A Schinzel , J Weissenbach . A gene for Holt-Oram syndrome maps to the distal long arm chromosome 12. Nat Genet 1994;6: 405408.

5. JA Terret , R Newbury-Ecob , GS Cross , I Fenton , JA Raeburn , ID Young , JD Brook . Holt-Oram syndrome is genetically heterogenous disease with one locus mapping to human chromosome 12q. Nat Genet 1994;6: 401404.

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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