Article
Report of a new patient with transposition of the great arteries with deletion of 22q11.2.
American journal of medical genetics - 24 Jul 1998
Marble M, Morava E, Lopez R, Pierce M, Pierce R
Abstract excerpt
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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