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29 Cards in this Set
- Front
- Back
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what is Fragile X syndrome
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trinucleotide repeat.... amplification of a 3 nucleotide sequence
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heterogygous
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one chromosomal locus
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homozygous
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loci on both chromosomes in the pair
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reduced or "incomplete penetrance"
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associated with autosomal dominant disorders..... the individual has the mutant dream
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variable expressivity
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can be detected in all carriers.... but to different extent
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what is an example of variable expressivity
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nuerofibromatosis
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largest group of mendelian disorders
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autosomal recessive
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when is the age of onset for autosomal recessive
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early in life
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x linked recessive disorders
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women are carriers .... men will express
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x linked DOMINANT ex/
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oro facial digital syndrome
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Lyonization
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16 days after conception
1 x chromosome in female zygote is inactiviated |
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cause of Marfan syndrome
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mutated fbn1 gene..... abnormal fibrillin.... leads to abnormal elastic fibrilin
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symptoms of marfan
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tall thin
arachadactyly aortic anurism dislocation of lens of eye |
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elhers danlos syndrom
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variety of collegen syndromes
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hyperholesteremia
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mutation of ldl receptor
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often die by age 15 of MI
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homozygeous hypercholesteremia
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phenylketouria
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leads to hyperphenylalaninamenia and PKU
no phenylalanine hydroxylase |
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phenylketouria onset
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autosomal recessive......
infants are retarded by 6 months ..... diet can prevent this |
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storage diseases
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Tay - Sachs
Neimann PIck Gaucher Mucopolysaccharidosis |
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hurler disease
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caused by laronidase deficiency
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hunter syndrome
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absence of l-iurdonate sulfatase
x linked |
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euploid
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normal chromosome count
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polyploidy
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3 x 23
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anuoploidy
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any number that is not an exact multiple of 23
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monosomy
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45
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translocation
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movement of information from one chromosome to another
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most common chromosomal disorder
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downs syndrome
trisomy 21 |
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klinfelter
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xxy
hypogonadism taurodontism |
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turner syndrome
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partial or complete loss of x
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