پاورپوینت کروموزوم (pptx) 25 اسلاید
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تعداد اسلاید: 25 اسلاید
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کروموزوم
Aneuploidy
As women age
some chromosomes exhibit non-disjunction in oocytes
Many theories why
13, 18, 21 associated with age
16 and X only first meiotic division associated with age
Most chromosome abnormalities incompatible with life
Will miscarry
Maternal age specific estimates of trisomy among all clinically recognisable pregnancies
Hassold et al., 1985
Parental origin of aneuploidy
Paternal % Maternal %
Trisomy 13 15 85
Trisomy 18 10 90
Trisomy 21 5 95
45,X 80 20
47,XXX 5 95
47,XXY 45 55
47,XYY 100 0
Chromosome abnormalities in humans
Spermatozoa 10%
Mature oocytes 25%
Spontaneous miscarriage 50%
Live births 0.5-1%
Most due to maternal meiotic non disjunction
Strongly related to maternal age
Natural selection at work
Chromosome abnormalities in miscarriages
Incidence %
Trisomy 13 2
Trisomy 16 15
Trisomy 18 3
Trisomy 21 5
Other Trisomy 25
Monosomy X 20
Triploidy 15
Tetraploidy 5
Other 10
Chromosome abnormalities in newborns
Incidence / 10,000 births
Trisomy 13 2
Trisomy 18 3
Trisomy 21 15
45,X 1
47,XXX 10
47,XXY 10
47,XYY 10
Unbalanced 10
Balanced 30
Total 90
Triploidy
Trisomy 16
Trisomy 13 &18
Trisomy 21
Klinefelters
45X
lethal
Most common in spontaneous miscarriages
Completely lethal. Cause unknown
95% miscarry
80% miscarry
50% miscarry
1% at conception
98% miscarry, probably mosaic survive
Chromosome abnormalities
7
6
3
2
1
2
4
5
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