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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 the smallest deleted region which, when lost, is sufficient to produce DGS. In four instances, a similar large deleted...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 8250039
PMCID: PMC1682508

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.PMID 8250039Read ↗

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Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.Semantic proximity Read ↗

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