Genetics Disorder Project--Bio
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Created by:
12jferguson2 on April 8, 2009
Subjects:
biology, Biology honors-Leitner
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15 terms
Terms | Definitions |
|---|---|
 Adrenoleukodystrophy | X-linked disorder located on the 23rd chromosome, when Very Long Chain Fatty Acids are found in blood tests it is confirmed and vegetation in children |
| Albinism | Defective gene for melanin production - producing pigments, a lack of pigment in the eyes, skin, or hair |
| Cleft Lip and Palate | Inherited after birth- a Gap in the upper lip or a Roof of the mouth not fused together |
| Colorblindness | is a sex-linked genetic disorder that is a deficiency in the way a person sees colors such as red and green, not actually real blindness |
| FOB | A rare, autosomal dominant disease that includes ainful episodes of soft tissue swelling and the appearance of tumors in subcutis and muscle tissue |
| Cri Du Chat | the missing of the 5th chromosome that causes Infants with this syndrome to have a high pitched cry that sounds like a cat |
| Cystic Fibrosis | an autosomal recessive disorder that impacts the mucus glands of the person, affecting their respiratory and digestive systems |
| Fragile X Syndrome | Caused when the Fragile X Mental Retardation 1 gene (found on the X chromosome) is unable to make usable amounts of the Fragile X Mental Retardation Protein |
| Huntington's Chorea | a brain disorder that destroys cells in the basal ganglia, which is the part of the brain that controls movement, emotion, and cognitive ability |
| Neurofibromatosis | a genetic disorder of the nervous system that primarily affects the development and growth of the nerve tissues |
| Progeria | syndromes cause rapid aging and shortened life span; aging eight times faster than normal |
| Proteus Syndrome | Mutation on either chromosome 10 or chromosome 16; Partial enlargement of the hands and/or feet; darkened, discolored skin, often raised and rough; overgrowth of one side of the face, body, or limbs |
| Sickle Cell Anemia | is a disorder in which the body makes a special kind of hemoglobin, type S, and this causes the red blood cells created in the bone marrow to be crescent shaped instead of the usual circular |
| Tay Sachs disease | caused by mutations on chromosome 15; Symptoms usually show up around 6 months,most patients will die before reaching 5 years old |
| Trisomy 18 Edward's Syndrome | is a chromosomal condition where there is an extra chromosome with the 18th pair; It affects all systems of the body and causes distinct facial features |
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