Report of a new patient with transposition of the great arteries with deletion of 22q11.2.
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.
Marble
M
M
Human Genetics Program, Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana 70112-2699, USA.
Morava
E
E
Lopez
R
R
Pierce
M
M
Pierce
R
R
D001402:B-Lymphocytes; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006996:Hypocalcemia; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013601:T-Lymphocytes; D014188:Transposition of Great Vessels / Q000209:etiology / Q000235:genetics* / Q000276:immunology