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Unformatted text preview: haploinsuffiencey of Pax3 inherited as dominant trait hair & eyes Greigs cephalopolysyndactyly 6 fingers grown together heterozygous for Gli3 relatively common birth defectnot fatal hemimelic (extra toes) extra thumbmutation in Shh enhancer Anchondroplasia (dominant dwarfism) caused by activated form of FGF3 receptor premature ossification of growth plates dominant gain of function-mutations are genes expressed in ectopic location/gene products that are over-active hemimelic dwarfism dominant negative-mutatinos are lss of function alleles that effect wildtype gene products Marfan syndrome-effects fibrin protein in elastic connective tissue Causes of Birth Defects endocrine distruptors diethylstilbestrol (DES) 50s&60senvironmental estrogen prescribed for morning sickness abnormal development of baby environmental estrogens...
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- Spring '07