Article
Molecular studies of DiGeorge syndrome.
American journal of human genetics - 1 May 1990
Fibison W J, Budarf M, McDermid H, Greenberg F, Emanuel B S
Abstract excerpt
DiGeorge Syndrome (DGS) is often associated with loss of a portion of the proximal long arm of chromosome 22. Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DGS proband. The D22S9 locus is deleted in four D...
Topics
- Alleles
- Blotting, Southern
- Cell Line
- Chromosome Deletion
- Chromosome Mapping
- DNA
- DiGeorge Syndrome
- Humans
- Immunologic Deficiency Syndromes
- Karyotyping
- Nucleic Acid Hybridization
- Restriction Mapping
- Translocation, Genetic