Two Case Reports With Prader-willi Syndrome And One Case Report With 15q11-13 Duplication Syndrome

Object:To improve the identification of Prader-Willi syndrome and 15q11-13 duplication syndrome by 3 case reports.Methods: Collect and analyze the children’s clinical data and genotype results who diagnosed as PWS or 15q11-13 duplication syndrome.Results:1.2 cases were diagnosed as Prader-Willi syndrom and have the clinical manifestations include hypotonia,growth retardation,mental retardation and dysplasia of the gonadal gland.These 2 cases arised from deletion of paternal 15q11-13.2.1 case was diagnosed as 15q11-13 duplication syndrome.The clinical manifestations include growth retardation,mental retardation,dysplasia of the gonadal gland and paroxysmal dyskinesias.Conclusion:1.The clinical phenotypes of Prader-Willi syndrome include central hypotonia,growth retardation,mental retardation and dysplasia of the gonadal gland.The clinical phenotypes of 15q11-13 duplication has the similar clinical features with PWS.2.15q11-13 duplication syndrome has the phenotype of paroxysmal dyskinesias.