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Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.

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Title: Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.
Authors: Nelson TJ; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA., McGinn DE; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Crowley TB; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rockart L; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Green A; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Giunta V; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Tran O; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Miller D; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA., Breckpot J; Department of Human Genetics KU Leuven & Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Swillen A; Department of Human Genetics KU Leuven & Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Digilio MC; Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy., Unolt M; Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy., Putotto C; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy., Pulvirenti F; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy., Marino B; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy., Emanuel BS; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zackai EH; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zhang ZD; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA., Goldmuntz E; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Boot E; Advisium, 's Heeren Loo Zorggroep, Amersfoort, the Netherlands.; Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNs), Maastricht University, Maastricht, the Netherlands.; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada., Bassett AS; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Toronto General Hospital Research Institute, University Health Network, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada., Morrow BE; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA., McDonald-McGinn DM; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Source: Clinical genetics [Clin Genet] 2026 May; Vol. 109 (5), pp. 859-868. Date of Electronic Publication: 2025 Dec 08.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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  Data: Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.
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  Data: <searchLink fieldCode="AU" term="%22Nelson+TJ%22">Nelson TJ</searchLink>; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.<br /><searchLink fieldCode="AU" term="%22McGinn+DE%22">McGinn DE</searchLink>; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Crowley+TB%22">Crowley TB</searchLink>; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Rockart+L%22">Rockart L</searchLink>; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Green+A%22">Green A</searchLink>; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Giunta+V%22">Giunta V</searchLink>; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Tran+O%22">Tran O</searchLink>; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Miller+D%22">Miller D</searchLink>; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.<br /><searchLink fieldCode="AU" term="%22Breckpot+J%22">Breckpot J</searchLink>; Department of Human Genetics KU Leuven & Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Swillen+A%22">Swillen A</searchLink>; Department of Human Genetics KU Leuven & Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Digilio+MC%22">Digilio MC</searchLink>; Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Unolt+M%22">Unolt M</searchLink>; Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy.; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Putotto+C%22">Putotto C</searchLink>; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pulvirenti+F%22">Pulvirenti F</searchLink>; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Marino+B%22">Marino B</searchLink>; Department of Maternal Infantile and Urological Sciences, La Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Emanuel+BS%22">Emanuel BS</searchLink>; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Zackai+EH%22">Zackai EH</searchLink>; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+ZD%22">Zhang ZD</searchLink>; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.<br /><searchLink fieldCode="AU" term="%22Goldmuntz+E%22">Goldmuntz E</searchLink>; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Boot+E%22">Boot E</searchLink>; Advisium, 's Heeren Loo Zorggroep, Amersfoort, the Netherlands.; Department of Psychiatry and Neuropsychology, Mental Health and Neuroscience Institute (MHeNs), Maastricht University, Maastricht, the Netherlands.; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Bassett+AS%22">Bassett AS</searchLink>; The Dalglish Family 22q Clinic, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Toronto General Hospital Research Institute, University Health Network, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Morrow+BE%22">Morrow BE</searchLink>; Department of Genetics, Pediatrics, Ob-Gyn and Women's Health, Albert Einstein College of Medicine, Bronx, New York, USA.<br /><searchLink fieldCode="AU" term="%22McDonald-McGinn+DM%22">McDonald-McGinn DM</searchLink>; 22q and You Center and Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine of the, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
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