[To know more about the Prader-Willi syndrome. Diagnosis].
Prader-Willi syndrome, induced by a function changes of paternal genes in the subcentrometric region of the chromosome 15 (q11.2q13), is the most common genetic cause of obesity resulting from hyperphagia. Behavioural disturbancies with compulsions in which psychiatric interventions are necessary, are relatively frequently seen. In this paper we reviewed the recent data of the clinical diagnosis verified by molecular studies.
Midro
Alina T
AT
Zakład Genetyki Klinicznej UM w Białymstoku.
Olchowik
Beata
B
Lebiedzińska
Aneta
A
Midro
Henryk
H
D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003192:Compulsive Behavior / Q000235:genetics; D017353:Gene Deletion; D018392:Genomic Imprinting; D006801:Humans; D009154:Mutation; D009765:Obesity / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics*