MUTATIONS

Gene Mutation: Methemoglobinemia Blue skin results from a mutated enzyme Body cannot recycle red blood cells

Gene Mutation: The Ultra-female Androgen Insensitivity Syndrome Genetically male (XY) Testosterone receptor proteins cannot detect the presence of testosterone Because testosterone, not a Y chromosome determines gender… Biologically female

Chromosomal Mutations: Klinefelter’s Syndrome XXY males Tend to be taller than normal Low testosterone levels

Chromosomal Mutations: Turner’s Syndrome XO female, only 45 chromosomes Never go through puberty Short stature Square-ended fingers and toes Limited sense of geographic direction