Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis
| Autor: | Löns P, Franke Uc, Hanefeld F, Löffler C, Ingo Hansmann, Peter J. Scambler, B. Zoll |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Monosomy medicine.medical_specialty Pathology Chromosomes Human Pair 22 High resolution In situ hybridization Biology 03 medical and health sciences 0302 clinical medicine 030225 pediatrics DiGeorge syndrome DiGeorge Syndrome Genetics medicine Humans Prospective Studies In Situ Hybridization Fluorescence Genetics (clinical) 030304 developmental biology Southern blot 0303 health sciences medicine.diagnostic_test Infant Newborn Cytogenetics Infant medicine.disease Blotting Southern Chromosome Deletion Chromosome 22 Fluorescence in situ hybridization |
| Zdroj: | Clinical Genetics. 46:187-192 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | Two patients with DiGeorge syndrome (DGS), one with and one without characteristic dysmorphic facial features, were studied by high resolution banding, fluorescence in situ hybridization (FISH) and quantitative Southern blotting. In both patients, even in the one with no typical facial stigmata, a microdeletion within 22q11.2 was detected. FISH analysis, in particular, is most useful in screening for 22q11.2 segmental monosomy in patients with DGS and DGS-related features. |
| Databáze: | OpenAIRE |
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