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

Michael Marble, Eva Morava, Robert Lopez, Maria Pierce, Robert Pierce

Research output: Contribution to journalArticle

13 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)317-318
Number of pages2
JournalAmerican journal of medical genetics
Volume78
Issue number4
DOIs
StatePublished - Jul 24 1998

Keywords

  • D-transposition of the great arteries
  • DiGeorge syndrome
  • Velo-cardio- facial syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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