| Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization. | |
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MedLine Citation:
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PMID: 7985979 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The authors have studied a series of 23 DiGeorge syndrome patients by prometaphase chromosome analysis and/or by FISH with a set of 6 cosmid probes spanning the previously described commonly deleted region. Four patients display a cytogenetically visible interstitial deletion in band 22q11.2, whereas the other 18 patients exhibit a molecular deletion evidenced only by FISH analysis. For 21 of the patients studied, the deletion encompasses the 6 loci tested, while for one, only the most telomeric of these loci is conserved. The last patient does not show any deletion with the probes used. |
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Authors:
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S Demczuk; C Desmaze; M Aikem; M Prieur; F Ledeist; M Sanson; G Rouleau; G Thomas; 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: Annales de génétique Volume: 37 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 1994 |
Date Detail:
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Created Date: 1994-12-30 Completed Date: 1994-12-30 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370562 Medline TA: Ann Genet Country: FRANCE |
Other Details:
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Languages: eng Pagination: 60-5 Citation Subset: IM |
Affiliation:
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Laboratoire de Génétique des Tumeurs, INSERM CJF9201, Institut Curie, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Chromosome Aberrations* DiGeorge Syndrome / blood, genetics*, immunology, pathology Face / abnormalities Female Genetic Markers Heart Defects, Congenital / genetics Humans Hypocalcemia / genetics In Situ Hybridization, Fluorescence* Infant Male Oligonucleotide Probes Parathyroid Glands / pathology Phenotype Sequence Deletion* T-Lymphocyte Subsets Thymus Gland / pathology |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/Oligonucleotide Probes |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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