Genomic Imprinting And Uniparental Disomy In Medicine Clinical And Molecular Aspects -

omim entry 105830 angelman syndrome as - a number sign is used with this entry because 4 known genetic mechanisms can cause angelman syndrome as approximately 70 of as cases result from de novo maternal deletions involving chromosome 15q11 2 q13 approximately 2 result from paternal uniparental disomy of 15q11 2 q13 and 2 to 3 result from imprinting defects, chromosome 15 genetics home reference nih - 15q13 3 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell the deletion occurs on the long q arm of the chromosome at a position designated q13 3, prader willi syndrome wikipedia - prader willi syndrome pws is a genetic disorder due to loss of function of specific genes in newborns symptoms include weak muscles poor feeding and slow development beginning in childhood the person becomes constantly hungry which often leads to obesity and type 2 diabetes there is also typically mild to moderate intellectual impairment and behavioral problems, childhood cancer genomics pdq health professional - this childhood cancer genomics summary provides a brief synopsis of current knowledge about the genomic landscape of specific childhood cancers get detailed information about various genetic alterations and precision medicine concepts in childhood cancers in this summary for clinicians, omim entry 253400 spinal muscular atrophy type iii - sma is an autosomal recessive neuromuscular disorder characterized by progressive proximal muscle weakness and atrophy affecting the upper and lower limbs, medical home portal prader willi syndrome - description prader willi syndrome pws is the most common genetically identified cause of life threatening obesity in humans diagnosis and management of pws requires a multidisciplinary approach and early diagnosis to achieve the best health outcomes