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17 Cards in this Set

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Chromosome mutations
loss-deletion of region or whole chromosome
relocation-123-->132(from another chromosome)
gain-duplication or extra chromosomes
Changes in chromosome number
-human health impact
-plant evolution and agriculture
Euploid
whole multiple (n, 2n,3n,4n, etc)
monoploid
n (male bees and male ants)
polyploids
(x)n
Autopolyploids
from one organism
Allopolyploids
from several organisms
Odd numbers
often sterile
Amphidploid
Allopolyploid that is fertile (2n + 2n = 4n)
Aneuploidy
-different in just one part
-causes: first division, non disjunction (don't line up right during division)
Monosomic
2n-1

Turner syndrome- 1/5000 female births (X-)
Trisomic
2n+1, usually inviable in diploids

Klinefelter syndrome (XXX or XXY)
Down syndrome- extra 21 chromosome
Patau (13), Edwords (18)
Gene Balance
-polyploidy better tolerated than aneuploidy because of gene ratios (4:4 vs 4:1)
-similar to dosage compensation
Chromosome structure rearrangements (caused by DNA breakage)
deletion: 1234-->134
duplication: 1234-->12234
inversion: 1234 --> 1324
translocation: 1234, 5678--> 178, 56234
Cri du Chat syndrome
-heterozygous deletion
-small head and retardation
williams syndrome
-heterozygous deletion on chromosome 7 (17 genes)
-mentally impaired, chatty, musically inclined, distinct appearance
15% of conceptions spontaneously abort
1/2 of these chromosomally abnormal