Selected genetic disorders affecting Ashkenazi Jewish families.
Ashkenazi Jews of Central and Eastern European ancestry have a disproportionately high prevalence of several autosomal recessive genetic disorders. This article describes these 9 disorders and their genetic inheritance patterns: Bloom syndrome; Canavan disease; cystic fibrosis; familial dysautonomia; Fanconi anemia; Gaucher disease; Mucolipidosis IV; Niemann-Pick disease; and Tay-Sachs disease. Genetic testing, counseling, and family planning options for the at-risk population are described. The role of the community health nurse is addressed.
Weinstein
Lenore B
LB
School of Dentistry, Division of Public Health, Marquette University, Milwaukee, WI, USA. lenorewein@aol.com
D003152:Community Health Nursing; D003376:Counseling; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000208:ethnology* / Q000235:genetics* / Q000451:nursing; D005820:Genetic Testing; D005828:Genetics, Population; D006801:Humans; D007585:Jews / Q000235:genetics*; D015995:Prevalence; D014481:United States / Q000453:epidemiology