Prader Willi and Angelman syndromes: exemplars of genomic imprinting
The molecular phenomenon genomic imprinting provides an explanation for why two clinically distinct syndromes share genetic etiologies. Increased understanding of genomic imprinting is affecting diagnostics. Use of improved diagnostic tests can enable early, syndrome-specific, and anticipatory interventions and consequently, improved quality of life; however, these tests are of little use unless clinicians are able to identify at-risk patients. Nurses knowledgeable about Prader Willi and Angelman syndromes and their associated genetic mechanisms can play a significant role in early identification, referral, and intervention of patients with these conditions.
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis
Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue
Eating themselves to death: have "personal rights" gone too far in treating people with Prader-Willi syndrome?
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
The human chromosomal gene for necdin, a neuronal growth suppressor, in the Prader-Willi syndrome deletion region
Atypical molecular findings identify limits of technical screening tests for Prader-Willi and Angelman syndrome diagnoses
Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.