A | B |
chance of autosomal recessive heterozygotes to have an affected child | 5 + 25 |
extra credit codeword | "karyotype" |
chance of autosomal dominant heterozygotes to have an affected child | 5 + 75 |
most common lethal gene in caucasians | Cystic Fibrosis |
lack melanin high frequency in Hopi & Navajo tribes | albinism |
abnormal RBCs cause blockage of capillaries & pain due to lack of oxygen. High frequency in black population | Sickle cell anemia |
lack of phenylalanine metabolism; requires dietary management | PKU |
inability to metabolize milk sugar | galactosemia |
inability to repair UV damage to DNA of the skin | Xeroderma Pigmentosa |
Gargoylism | Hurler's syndrome |
causes genetic emphyszema | Alpha-1-Antitrypsin |
immotile cilia syndrome | Kartagner's Syndrome |
causes the brain of a fetus to develop outside the cranium | Meckel-Gruber Syndrome |
"Old age" disease | Progeria |
cloverleaf skull | Kleeblattschladel Anomaly |
lipid buildup in the brain; regression begins at 6 months of age | Tay-Sachs |
anemia caused by absence of hemoglobin production in RBCs; affects those of Mediterranean decent | Thalasemia |
abnormal connective tissue; loose joints | Ehler-Danlos |
bony wedge over bridge of nose | Craniodiaphyseal Dysplasia |
elevated pressure in the eye that can lead to blindness | glaucoma |
"Old Age" disease | Progeria |
retarded bone growth; death in infancy | Lepriconism |
1) trait skips generations 2) unaffected parents can have an affected child 3) 25% occurence | autosomal recessive pedigree |
1) present in every generation 2) affected individuals can have an unaffected child 3) 50% occurence | autosomal dominant pedigree |