Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses.
Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France.
P
P
Malzac
A
A
Moncla
K
K
Pedeillier
C
C
Vo Van
L
L
Girardot
M A
MA
Voelckel
D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D015139:Blotting, Southern; D002648:Child; D019175:DNA Methylation; D005188:False Negative Reactions; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008677:Metaphase; D018895:Microsatellite Repeats; D010375:Pedigree; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics