Imprinting Disorders
Imprinting disorders are genetic conditions that occur due to abnormal expression of genes inherited from one or both parents. These disorders often arise from a phenomenon called genomic imprinting, where certain genes are turned on or off depending on their parental origin. Common examples include Prader-Willi syndrome and Angelman syndrome, which result from the loss of function of specific genes on chromosome 15.
Individuals with imprinting disorders may experience a range of symptoms, including developmental delays, behavioral issues, and physical abnormalities. Diagnosis typically involves genetic testing to identify the specific imprinting error. Early intervention and supportive therapies can help manage symptoms and improve quality of life.