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

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

Research output: Contribution to journalArticle

13 Citations (Scopus)

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
Externally publishedYes

Fingerprint

Transposition of Great Vessels
B-Lymphocyte Subsets
Hypocalcemia
T-Lymphocyte Subsets

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Report of a new patient with transposition of the great arteries with deletion of 22q11.2. / Marble, Michael; Morava-Kozicz, Eva; Lopez, Robert; Pierce, Maria; Pierce, Robert.

In: American Journal of Medical Genetics, Vol. 78, No. 4, 24.07.1998, p. 317-318.

Research output: Contribution to journalArticle

Marble, Michael ; Morava-Kozicz, Eva ; Lopez, Robert ; Pierce, Maria ; Pierce, Robert. / Report of a new patient with transposition of the great arteries with deletion of 22q11.2. In: American Journal of Medical Genetics. 1998 ; Vol. 78, No. 4. pp. 317-318.
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