Diagnosis in Prader-Willi syndrome.
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.
Chu
C E
CE
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow.
Cooke
A
A
Stephenson
J B
JB
Tolmie
J L
JL
Clarke
B
B
Parry-Jones
W L
WL
Connor
J M
JM
Donaldson
M D
MD
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
D015342:DNA Probes