| Microsatellite DNA markers detects 95% of chromosome 22q11 deletions. | |
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MedLine Citation:
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PMID: 9028455 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cono-truncal cardiac malformations account for some 50% of congenital heart defects in newborn infants. Recently, hemizygosity for chromosome 22q11.2 was reported in patients with the DiGeorge/Velo-cardio-facial syndromes (DGS/VCFS) and causally related disorders. We have explored the potential use of microsatellite DNA markers for rapid detection of 22q11 deletions in 19 newborn infants referred for cono-truncal heart malformations with associated DGS/VCFS anomalies. A failure of parental inheritance was documented in 84.2% of cases (16/19). PCR-based genotyping using microsatellite DNA markers located within the commonly deleted region allowed us either to confirm or reject a 22q11 microdeletion in 94.3% of cases (18/19) within 24 hours. This test is now currently performed in the infants referred to us for a cono-truncal heart malformation as a first intention screening for 22q11 microdeletion. |
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Authors:
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D Bonnet; V Cormier-Daire; J Kachaner; I Szezepanski; P Souillard; D Sidi; A Munnich; S Lyonnet |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 68 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1997 Jan |
Date Detail:
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Created Date: 1997-04-25 Completed Date: 1997-04-25 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 182-4 Citation Subset: IM |
Affiliation:
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Unité de Recherches sur les Handicaps Génétiques de l'Enfant-INSERM U-393, Hôpital des Enfants Malades, Paris, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Chromosomes, Human, Pair 22 / genetics* DiGeorge Syndrome / diagnosis*, genetics* Heart Defects, Congenital / diagnosis, genetics Humans In Situ Hybridization, Fluorescence Infant, Newborn Microsatellite Repeats* Pedigree Polymerase Chain Reaction Sequence Deletion |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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