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genetic disorders
disorders
| Question | Answer |
|---|---|
| albinism (autosomal recessive inheritance) | absence of pigmentation |
| blue offspring (autosomal recessive inheritance) | bright blue skin coloration |
| cystic fibrosis (autosomal recessive inheritance) | excessive glandular secretions leading to tissue, organ damage |
| ellis-van creveld syndrome (autosomal recessive inheritance) | extra fingers and toes, short libs |
| fanconi anemia (autosomal recessive inheritance) | physical abnomalities,bone marrow failure |
| galactosemia (autosomal recessive inheritance) | brain,liver, eye damage |
| phenylketonuria (PKU) (autosomal recessive inheritance) | mental impairment |
| sickle-cell anemia (autosomal recessive inheritance) | adverse pleiotropic effects on organs throughout body |
| achondroplasia (autosomal domin inheritance) | one form of dwarfism |
| camptodactyly (autosomal domin inheritance) | rigid, bend finger |
| familial hypercholesterolemia (autosomal domin inheritance) | high cholesterol levels in blood; eventually cloggs arteries |
| huntington disease (autosomal domin inheritance) | nervous system degenerates progressively, irreversibly |
| marfan syndrome (autosomal domin inheritance) | abnormal or no connective tissue |
| polydactyly (autosomal domin inheritance) | extra fingers, toes or both |
| progeria (autosomal domin inheritance) | drastic premature aging |
| neurofibromatosis (autosomal domin inheritance) | tumors of the nervous system, skin |
| fragile Xsyndrome (x-linked rece) | mental impairment |
| hemophilia (x-linked rece) | impaired blood-clotting ability |
| muscular dystrophies (x-linked rece) | progressive loss of muscle function |
| x-linked anhidrotic (x-linked rece) | mosaic skin(patches with or without sweat glands); other effects |
| down syndrome (chrom num) | mental impairment; heart defects |
| turner syndrome (chrom num) | sterility; abnormal ovaries, abnormal sexual traits |
| klinefelter syndrome (chrom num) | steril; mild mental impairment |
| xxxsyndrome (chrom num) | minimal abnormalities |
| xyy condition (chrom num) | mild mental impairment or no effect |
| chronic myelogenous leukemia(CML) (chrom struc) | overproduction of white blood cells in bone marrow; organ malfunctions |
| cri-du-chat syndrome (chrom struc) | mental impairment; abnormally shaped larynx |
Created by:
hazel835
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