TY - JOUR T1 - Diagnosis of Prader-Willi syndrome JF - Archives of Disease in Childhood JO - Arch Dis Child SP - 210 LP - 210 DO - 10.1136/adc.88.3.210 VL - 88 IS - 3 A2 - , Y1 - 2003/03/01 UR - http://adc.bmj.com/content/88/3/210.abstract N2 - 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 … ER -