Article
Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.
American journal of medical genetics - 27 Mar 1995
Lindsay E A, Greenberg F, Shaffer L G, Shapira S K, Scambler P J, Baldini A
Abstract excerpt
DiGeorge anomaly (DGA) and velo-cardiofacial syndrome (VCFS) are frequently associated with monosomy of chromosome region 22q11. Most patients have a submicroscopic deletion, recently estimated to be at least 1-2 Mb. It is not clear whether individuals who present with only some of the features of these conditions have the deletion, and if so, whether the size of the deletion varies from those with more classic...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 22
- DiGeorge Syndrome
- Face
- Genetic Variation