| Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. | |
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MedLine Citation:
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PMID: 8444474 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In the ten patients, a microdeletion was demonstrated by in situ hybridization, but suspected only in two patients by high resolution banding. |
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Authors:
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C Desmaze; P Scambler; M Prieur; S Halford; D Sidi; F Le Deist; A Aurias |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Human genetics Volume: 90 ISSN: 0340-6717 ISO Abbreviation: Hum. Genet. Publication Date: 1993 Feb |
Date Detail:
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Created Date: 1993-04-05 Completed Date: 1993-04-05 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 7613873 Medline TA: Hum Genet Country: GERMANY |
Other Details:
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Languages: eng Pagination: 663-5 Citation Subset: IM |
Affiliation:
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URA 620 CNRS, Institut Curie, Paris, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22* DiGeorge Syndrome / diagnosis*, genetics* Female Genetic Testing Humans In Situ Hybridization, Fluorescence Infant Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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