Article
Report of a new patient with transposition of the great arteries with deletion of 22q11.2.
American journal of medical genetics - 24 Jul 1998
Marble M, Morava E, Lopez R, Pierce M, Pierce R
Abstract excerpt
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.
Topics
- B-Lymphocytes
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Face
- Genetic Testing
- Genotype
- Humans
- Hypocalcemia
- Infant, Newborn
- Male
- Phenotype
- T-Lymphocytes
- Transposition of Great Vessels