Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses

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Bibliographic Details
Published in:	American journal of medical genetics Vol. 78; no. 3; pp. 242 - 244
Main Authors:	Malzac, Perrine, Moncla, Anne, Pedeillier, Karinne, Van, Catherine Vo, Girardot, Lydie, Voelckel, Marie-Antoinette
Format:	Journal Article
Language:	English
Published:	New York John Wiley & Sons, Inc 07-07-1998 Wiley-Liss
Subjects:	Angelman Syndrome - diagnosis Angelman Syndrome - genetics Biological and medical sciences Blotting, Southern Child Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) DNA Methylation False Negative Reactions Female Genetic Counseling Genetic Testing - methods Genotype Humans In Situ Hybridization, Fluorescence Male Medical genetics Medical sciences Metaphase Microsatellite Repeats Pedigree Phenotype Polymorphism, Restriction Fragment Length Prader-Willi Syndrome - diagnosis Prader-Willi Syndrome - genetics Endocrinopathy Molecular hybridization In situ Diseases of the osteoarticular system Fluorescence Genetic determinism Specificity Gene Genetics Diagnosis Complex syndrome Prader Labhart Willi syndrome Human Nervous system diseases Exploration Happy puppet syndrome Congenital disease Cerebral disorder Genetic disease Sensitivity Genetic counseling Malformation Chromosome D15 DNA Central nervous system disease Mutation Technique Molecular biology Methylation
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Bibliography:	ark:/67375/WNG-HRVL3XM8-K ArticleID:AJMG6 istex:2A76BA6FB0C3E52F976C5976FC9CF99A23A29D1F ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19980707)78:3<242::AID-AJMG6>3.0.CO;2-R