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.
Prows
C A
CA
Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Hopkin
R J
RJ
D017204:Angelman Syndrome / Q000235:genetics* / Q000451:nursing; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D017283:Neonatal Nursing; D009730:Nursing Assessment; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000451:nursing; D012017:Referral and Consultation