title: Diagnosis in Prader-Willi syndrome.
abstract: Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular genetic studies.
authors: Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow.
authors: C E
authors: CE
authors: Chu
authors: A
authors: A
authors: Cooke
authors: J B
authors: JB
authors: Stephenson
authors: J L
authors: JL
authors: Tolmie
authors: B
authors: B
authors: Clarke
authors: W L
authors: WL
authors: Parry-Jones
authors: J M
authors: JM
authors: Connor
authors: M D
authors: MD
authors: Donaldson
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002872:Chromosome Deletion; D015342:DNA Probes; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics
chemical_list: D015342:DNA Probes