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Report of a new patient with transposition of the great arteries with deletion of 22q11.2

✍ Scribed by Marble, Michael; Morava, Eva; Lopez, Robert; Pierce, Maria; Pierce, Robert

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 9 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980724)78:4<317::aid-ajmg2>3.0.co;2-i

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✦ Synopsis

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.

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