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Diagnosis of Prader-Willi syndrome
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The relationship between genotype and phenotype in Prader-Willi syndrome has not been completely delineated. Clinical diagnosis is based on a list of major or minor criteria present in the neonatal period and in later childhood, adolescence, and adult life. Genetic diagnosis is dependent on methylation analysis at the SNURF/SNRPN locus. A study based on the former Anglia and Oxford Health Region (J Whittington and colleagues. (
J Med Genet2002;39:926–32
The study included 103 people with positive genetic tests for Prader-Willi syndrome. Sixty-one of these were from a population based sample within the region and 42 from other regions). There were 19 with negative genetic tests but positive clinical criteria, and 10 from the population study with neither appropriate clinical criteria nor positive genetic tests plus 22 controls with learning disorders of other aetiologies.
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