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AP Biology
2006-2007
nondisjunction
chromosomes dont separate properly
during meiosis
breakage of chromosomes
deletion duplication inversion
translocation
AP Biology
Nondisjunction
Problems in meiosis cause errors in daughter cells
chromosome pairs do not separate properly during Meiosis 1 sister chromatids fail to separate during Meiosis 2 too many or too few chromosomes
2n
n-1 n
n+1 n
AP Biology
AP Biology
trisomy
cells have 3 copies of a chromosome
monosomy
cells have only 1 copy of a chromosome n-1 n n
n+1
trisomy
AP Biology
monosomy
2n-1
2n+1
AP Biology
Chromosome 21 is the
smallest human chromosome
Frequency of Down
syndrome is related to the age of the mother
AP Biology
Under 30
30 35 36
<1 in 1000
1 in 900 1 in 400 1 in 300
37
38 39 40
1 in 230
1 in 180 1 in 135 1 in 105 Rate of miscarriage due to amniocentesis: 1970s data 0.5%, or 1 in 200 pregnancies 2006 data <0.1%, or 1 in 1600 pregnancies
42
44 46 48
AP Biology
1 in 60
1 in 35 1 in 20 1 in 16
49
1 in 12
Analysis of karyotype
AP Biology
XXY = Klinefelters syndrome male XXX = Trisomy X female XYY = Jacobs syndrome male XO = Turner syndrome female
AP Biology
AP Biology
Klinefelters syndrome
AP Biology
AP Biology
Trisomy X XXX
1 in every 2000 live births produces healthy females
Why?
AP Biology
AP Biology
duplication
inversion
translocation
AP Biology
Dont hide
Ask Questions!!
AP Biology
2006-2007