Article
Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.
Molecular and cellular biochemistry - 1 Sept 2007
Sandrin-Garcia Paula, Abramides Dagma V M, Martelli Lúcia R, Ramos Ester S, Richieri-Costa Antônio, Passos Geraldo A S
Abstract excerpt
Velocardiofacial syndrome (VCFS) is a relatively common developmental disorder characterized by craniofacial anomalies and conotruncal heart defects. Many VCFS patients present hemizygous deletions on part of chromosome 22q11.2; suggestive that haploinsufficiency in this region is responsible for this etiology. Most 22q11.2 deletions occur sporadically, although in some cases the deletion may be transmitted. A...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Chromosome Deletion
- Chromosomes, Human, Pair 22
- Craniofacial Abnormalities
- DNA
- DiGeorge Syndrome
- Female
- Genetic Markers
- Genotype
- Humans
- Male
- Pedigree
- Phenotype
- Polymerase Chain Reaction