Article
Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.
American journal of human genetics - 1 Dec 1993
Desmaze C, Prieur M, Amblard F, Aikem M, LeDeist F, Demczuk S, Zucman J, Plougastel B, Delattre O, Croquette M F
Abstract excerpt
We describe the relative ordering, by fluorescence in situ hybridization, of cosmid loci and translocation breakpoints in the DiGeorge syndrome (DGS) critical region of chromosome 22. This physical map enables us to define a large region, commonly deleted in a majority of affected patients, and t...
Topics
- Adult
- Cell Line
- Child
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 22
- Cosmids
- DiGeorge Syndrome
- Female
- Humans
- Hybrid Cells
- In Situ Hybridization, Fluorescence
- Infant
- Infant, Newborn
- Male