Article
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
American journal of human genetics - 1 Sept 1997
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali S R, Weissman S M, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow B E
Abstract excerpt
Velo-cardio-facial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients have hemizygous deletions for a part of 22q11, suggesting that haploinsufficiency in this region is responsible for its etiolo...
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosome Mapping
- Chromosomes, Human, Pair 22
- Cleft Palate
- Craniofacial Abnormalities
- Genetic Markers
- Genotype
- Heart Defects, Congenital
- Humans
- Hybrid Cells