Prader-Willi syndrome.
Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormone insufficiency causing short stature for the family, early childhood-onset hyperphagia and obesity, characteristic appearance, and behavioral and sometimes psychiatric disturbance. Many more minor characteristics can be helpful in diagnosis and important in management. PWS is an example of a genetic condition involving genomic imprinting. It can occur by three main mechanisms, which lead to absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and imprinting defect.
Cassidy
Suzanne B
SB
Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143-0706, USA. suzannecassidy@comcast.net
Driscoll
Daniel J
DJ
D000293:Adolescent; D000328:Adult; D002648:Child; D002653:Child Behavior Disorders / Q000235:genetics / Q000628:therapy; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics / Q000628:therapy; D005260:Female; D005817:Genetic Counseling; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D007006:Hypogonadism / Q000628:therapy; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000628:therapy; D009765:Obesity / Q000235:genetics / Q000628:therapy; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D011618:Psychotic Disorders / Q000235:genetics / Q000628:therapy; D055815:Young Adult
D019382:Human Growth Hormone
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