Basicmedical Key

References for Specific Topics Biesecker LG. Incidental variants are critical for genomics. Am J Hum Genet. 2013;92:648–651. Elger B, Michaud K, Mangin P. When information can save lives: the duty…

General References Beauchamp TL, Childress JF. Principles of biomedical ethics. ed 5. Oxford University Press: New York; 2001. Kevles D. In the name of eugenics: genetics and the uses of…

A woman first presents with an autosomal dominant disorder at the age of 40 years, undergoes testing, and is found to carry a particular mutation in a gene known to…

Ethical Dilemmas in Genetic Testing Prenatal Genetic Testing Geneticists are frequently asked to help couples use prenatal diagnosis or assisted reproductive technology to avoid having offspring with a serious hereditary…

Among the affected individuals, two were heterozygotes for FVL and one was homozygous for FVL. Set up a 3 × 2 table for the association of the homozygous FVL genotype,…

References for Specific Topics Amstutz U, Carleton BC. Pharmacogenetic testing: time for clinical guidelines. Pharmacol Therapeutics. 2011;89:924–927. Bennett MJ. Newborn screening for metabolic diseases: saving children’s lives and improving outcomes….

Unfortunately, no DNA analysis had been conducted on the woman’s brother to determine what type of mutation in the DMD gene he had. The woman was investigated by molecular analysis…

Specific References American College of Obstetricians and Gynecologists Committee on Genetics. The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2009;122:1374–1377. American College of Obstetricians and Gynecologists Committee…

General References Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. ed 4. Oxford University Press: New York; 2011. Milunsky A, Milunsky J. Genetic disorders and the fetus:…