Journal Article

Prader–Willi syndrome

Driscoll, Daniel J, Cassidy, Suzanne B

2009

Overview

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.

• Publisher: Springer International Publishing,Nature Publishing Group
• Subject: Adolescent / Adult / Behavior / Bioinformatics / Biological and medical sciences / Biomedical and Life Sciences / Biomedicine / Child / Child Behavior Disorders - genetics / Child Behavior Disorders - therapy / Child, Preschool / Children / Chromosome 15 / Chromosomes, Human, Pair 15 - genetics / Classical genetics, quantitative genetics, hybrids / Cytogenetics / Deoxyribonucleic acid / Developmental Disabilities - genetics / Developmental Disabilities - therapy / Diagnosis / DNA / DNA methylation / Female / Fundamental and applied biological sciences. Psychology / Gene Expression / General aspects. Genetic counseling / Genetic Counseling / Genetic testing / Genetics / Genetics of eukaryotes. Biological and molecular evolution / Genomic imprinting / Genotype & phenotype / Growth hormone / Growth hormones / Human / Human Genetics / Human Growth Hormone - therapeutic use / Humans / Hyperphagia / Hypogonadism / Hypogonadism - therapy / Imprinting / Infant / Intellectual disabilities / Male / Medical genetics / Medical sciences / Metabolic diseases / Molecular and cellular biology / Muscle Hypotonia - genetics / Muscle Hypotonia - therapy / Obesity / Obesity - genetics / Obesity - therapy / Pediatrics / Phenotype / Practical Genetics / Prader-Willi syndrome / Prader-Willi Syndrome - diagnosis / Prader-Willi Syndrome - genetics / Prader-Willi Syndrome - physiopathology / Prader-Willi Syndrome - therapy / Psychotic Disorders - genetics / Psychotic Disorders - therapy / Uniparental disomy / Young Adult