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

Szczegóły
Abstrakt

Tytuł:: Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.
Autorzy:: Desmaze C; Laboratoire de Génétique des Tumeurs INSERM CJF9201 and CNRS URA 620, Institut Curie, France.
Prieur M
Amblard F
Aikem M
LeDeist F
Demczuk S
Zucman J
Plougastel B
Delattre O
Croquette MF
et. al.
Źródło:: American journal of human genetics [Am J Hum Genet] 1993 Dec; Vol. 53 (6), pp. 1239-49.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Publication: 2008- : [Cambridge, MA] : Cell Press
Original Publication: Baltimore, American Society of Human Genetics.
MeSH Terms:: Chromosome Mapping*
Chromosomes, Human, Pair 22*
DiGeorge Syndrome/*genetics
Adult ; Cell Line ; Child ; Chromosome Deletion ; Cosmids ; DiGeorge Syndrome/pathology ; Female ; Humans ; Hybrid Cells ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Molecular Probes ; Pedigree ; Phenotype ; Pregnancy ; Translocation, Genetic
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Substance Nomenclature:: 0 (Molecular Probes)
Entry Date(s):: Date Created: 19931201 Date Completed: 19931230 Latest Revision: 20200824
Update Code:: 20240104
PubMed Central ID:: PMC1682508
PMID:: 8250039
: Czasopismo naukowe

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.

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