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

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1998-07, Vol.78 (3), p.242-244
Hauptverfasser:	Malzac, Perrine, Moncla, Anne, Pedeillier, Karinne, Van, Catherine Vo, Girardot, Lydie, Voelckel, Marie-Antoinette
Format:	Artikel
Sprache:	eng
Schlagworte:	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
Online-Zugang:	Volltext
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