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.
Human Genetics Program, Hayward Genetics Center, Tulane University School of Medicine, New Orleans, Louisiana 70112-2699, USA.
M
M
Marble
E
E
Morava
R
R
Lopez
M
M
Pierce
R
R
Pierce
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