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Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot
  1. M Cristina Digilio1,
  2. Bruno Marino2,
  3. Bruno Dallapiccola1
  1. 1Medical Genetics, Bambino Gesu' Paediatric Hospital, IRCCS, Rome, Italy
  2. 2Department of Pediatrics, Pediatric Cardiology, La Sapienza University, Rome, Italy
  1. Correspondence to Dr M Cristina Digilio, Medical Genetics, Bambino Gesu' Paediatric Hospital, IRCCS, Piazza S.Onofrio 4, 00165 Rome, Italy; mcristina.digilio{at}

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To the Editor We read with interest the paper by van Engelen et al,1 analysing the prevalence of 22q11.2 deletion syndrome (22q11.2DS) in adults with tetralogy of Fallot (TOF) and with pulmonary atresia (PA)/ventricular septal defect (VSD). We agree with the fact that many adult patients with TOF have not been tested for 22q11.2DS in the past, and awareness of the syndrome is needed among clinicians who care for adults with congenital heart defects. Nevertheless, …

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  • Competing interests None.

  • Provenance and peer review Not commissioned; not externally peer reviewed.

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