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Which of the following genetic defects does not follow Mendelian patterns of inheritance?
Defect in the fibroblast growth factor (FGF) receptor 3
Mutation of a gene coding for a sulfate transport protein
Defect in the Gs-alpha protein
Defect in the fibrillin gene
Deficient activity of the enzyme ß-glucosidase (glucocerebrosidase)
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Which of the following conditions exhibit the inheritance pattern shown in Figure A, assuming no new mutations?
Duchenne muscular dystrophy
Spondyloepiphyseal dysplasia (SED) tarda
Prader-Willi syndrome and Angelman syndrome are examples of a genetic phenomenon by which certain genes are expressed in a parent-of-origin-specific manner. What is the name of this genetic phenomenon?
Sex-linked dominant transmission
Y-linked dominant transmission
X-linked dominant transmission
Which of the following is a phenomenon whereby the symptoms of a genetic disorder become apparent at an earlier age as it is passed on to the next generation?
A 46-year-old female begins to have personality changes, cognitive decline, and chorea. Her father began having similar but less severe symptoms at age 55 before passing away 6 years later. One of her 2 older siblings has also begun to show deterioration. Which of the following describes the hereditary pattern of this disease?
Autosomal dominant with variable penetrance
Autosomal recessive with variable penetrance
Autosomal dominant with anticipation
Autosomal dominant with imprinting