Article
Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
American journal of medical genetics - 18 Dec 1996
Ravnan J B, Chen E, Golabi M, Lebo R V
Abstract excerpt
Velocardiofacial syndrome (VCFS) and the DiGeorge sequence (DGS) are caused by 22q11.2 deletions. Fluorescence in situ hybridization (FISH) using the DiGeorge chromosome region (DGCR) probe (Oncor) was used to detect 31 deletions in 100 patients with possible VCFS. Retrospective FISH analysis of...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 22
- Craniofacial Abnormalities
- DNA Probes
- DiGeorge Syndrome
- Female
- Heart Defects, Congenital
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Karyotyping