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

doi:10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I

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

Medical Genetics

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	317-318
Number of pages	2
Journal	American journal of medical genetics
Volume	78
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I
State	Published - 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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10.1002/(SICI)1096-8628(19980724)78:4<317::AID-AJMG2>3.0.CO;2-I

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AU - Lopez, Robert

AU - Pierce, Maria

AU - Pierce, Robert

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AB - 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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KW - DiGeorge syndrome

KW - Velo-cardio- facial syndrome

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

Abstract

Keywords

ASJC Scopus subject areas

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