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Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.

Abstract:

DiGeorge syndrome (DGS) is a developmental defect characterized by cardiac defects, facial dysmorphism, and mental retardation. Several studies have described a critical region for DGS at 22q11, within which the majority of DGS patients have deletions. We have isolated nine cosmid and three YAC clones using previously described and newly isolated probes that have been shown to be deleted in many DGS patients. Using fluorescence in situ hybridization and digital imaging, we have mapped and ord...

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Publication status:
Published

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Publisher copy:
10.1006/geno.1993.1339

Authors


Lindsay, EA More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Scambler, PJ More by this author
Baldini, A More by this author
Journal:
Genomics
Volume:
17
Issue:
2
Pages:
403-407
Publication date:
1993-08-05
DOI:
EISSN:
1089-8646
ISSN:
0888-7543
URN:
uuid:7408b60d-70c9-4094-919b-66439aece253
Source identifiers:
251629
Local pid:
pubs:251629

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