Volume 78, Issue 4 pp. 317-318
Brief Clinical Report
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Report of a new patient with transposition of the great arteries with deletion of 22q11.2

Michael Marble

Corresponding Author

Michael Marble

Human Genetics Program, Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana

Human Genetics Program, Hayward Genetics Center, SL31, 1430 Tulane Avenue, New Orleans, LA 70112-2699Search for more papers by this author
Eva Morava

Eva Morava

Human Genetics Program, Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana

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Robert Lopez

Robert Lopez

Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana

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Maria Pierce

Maria Pierce

Department of Pediatrics/Neonatology, Tulane University School of Medicine, New Orleans, Louisiana

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Robert Pierce

Robert Pierce

Department of Pediatrics/Pediatric Cardiology, Tulane University School of Medicine, New Orleans, Louisiana

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Abstract

We report on a new patient with d-transposition of the great arteries who was found to have deletion of 22q11.2. He had minor facial anomalies, normal T- and B-cell subsets, and transient hypocalcemia. Similar to rare previous reports, our patient's extracardiac manifestations were relatively mild. Am. J. Med. Genet. 78:317–318, 1998. © 1998 Wiley-Liss, Inc.

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