Apparent Prader-Willi phenotype in a woman with ring chromosome 9.
A 25-year-old mentally retarded woman was evaluated because of her socially inappropriate behavior. She had a phenotype so closely resembling that of the Prader-Willi syndrome that several experienced clinical geneticists immediately identified her as having that condition. Chromosome analysis showed a ring chromosome 9 but no apparent abnormality of chromosome 15.
D000328:Adult; D002869:Chromosome Aberrations; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D012303:Ring Chromosomes