Article
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2014
Mikhail Fady M, Burnside Rachel D, Rush Brooke, Ibrahim Jennifer, Godshalk Robin, Rutledge S Lane, Robin Nathaniel H, Descartes Maria D, Carroll Andrew J
Abstract excerpt
PURPOSE: The five segmental duplications (LCR22-D to -H) at the distal region of chromosome 22 band q11.2 in the region immediately distal to the DiGeorge/velocardiofacial syndrome deleted region have been implicated in the recurrent distal 22q11.2 microdeletions. To date, the distal 22q11.2 microdeletions have been grouped together as a single clinical entity despite the fact that these deletions are variable in...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Comparative Genomic Hybridization
- DiGeorge Syndrome
- Female