Work

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

Year: 1993

Type: article

Abstract: 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 region is observed in a familial context. In these pedigrees, the deletion is encountered in one parent with mild features of the disease.

Source: Europe PMC (PubMed Central)

Authors: C Desmaze, M Prieur, F Amblard, M Aikem, F LeDeist, S Demczuk, J Zucman, B Plougastel, O Delattre, M F Croquette

Institutions: Centre National de la Recherche Scientifique, Inserm, Institut Curie

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W1563083017

FWCI: 2.808

Cites: 39

Cited by: 59

Related to: 10