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24 Cards in this Set
- Front
- Back
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Phenotype
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refers to the physical and biochemical attributes of an indiviual that are outwardly apparent
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genotype
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unique genetic makeup
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Meiosis contributes #s
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23 chromosomes from mother and father which creates a 46 chromosome child. 22 autosomal and 1 sex from each
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Meiosis stages
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1 replication. pairing. crossing over, spliting
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monosomy
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the result in one daughter cell with the normal number of chromosomes and one with a deficiency of one chromosome
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aneuploidy
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refers to an abnormal number of chromosomes
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nondisfunction
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means that the paired homologous chromosomes fair to separate normally during either the first or second meiotic division. Resulting germ cells then have an abnormal number of chromosomes; one will have 22
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Trisomy 21 is...
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chromosomal aneuploidy. Resulting in three 21st chromosomes causing mental retardation
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Trisomy 18 and 13
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3 18th or 13th chromosomes and resulting in mental retardation. usually death occurs in the first 6 months of life.
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Klinefelter syndrome
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Genetic DX of the sex chromosome. XXY genotype resulting in sexual abnormalities and feminization.
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Turner Syndrome.
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Monosomy X. With no Y. resulting in female phenotype and these individuals are sterile.
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Multiple X Females and Double Y males.
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Appear normal but have a tendency to be MR in XXY females.
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Marfan Syndrome
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Autosomal Dominant disorder Disorder of the connective tissue. Tall, slender, with long thin arms.
Weak blood vessels. |
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Huntington DX
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Autosomal dominant dx. primarily affects neurologic function. The symptoms of mental deterioration and involuntary movement. Usually doesn't show symptoms until 40.
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Autosomal Recessive disorder
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aa. both parents must be a carrier of the dx
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Albinism...
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Autosomal recessive dx with the lack of pigmentation in the skin. def tyrosinase.
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PKU..
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Autosomal recessive. Inability to metabolize phenylalanine dydroexylase . build up that can cause nervous system problems (irritable and tremorous)
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Cystic Fibrosis
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Autosomal recessive. Defect in a membrane transporter for Ch ions in epithelial cells. abnormally thick secretions in glandular tissue. Due to the depletion of three nucleotides that normally code for phenylalanie.
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Hemophilia A
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Bleeding disorder that is def in factor VIII. sex linked
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Triplet Repeat Mutation
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Fragile X syndrome. Sex Linked. MR
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Teratogenic Agents
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Chemicals and Drugs, Infectious agents, radiation
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Cosanguinity
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the mating of related individuals.
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autosomal recessive disorder characteristics
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equally affected
most time disease is not apparent in the parents or relatives Unaffected individuals may pass to offspring. Mating of two carriers bring a 1:4 chance of offspring with the dx |
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autosomal dominant disorder
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equally affected
affected individuals usually have an affected parent offspring of an affected individual have a 1 and 2 chance of getting it |
