CHROMOSOMAL ABNORMALITIES - MOCAISICM

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  • Created by: hebo
  • Created on: 12-04-17 11:50
Which disorder is caused by primary Trisomy 21?
Down's Syndrome
1 of 19
Which disorder can be caused by translocation leading to a genotype 46Xn der(14;21) (q10;q10) + 21
Down's Syndrome
2 of 19
Which disorder is caused by primary Trisomy 18?
Edward's Syndrom
3 of 19
Which disorder is caused by primary Trisomy 13?
Pautau Syndrome
4 of 19
Which disorder can also be caused by a translocation leading to a genotype 46 Xn +13 der(13;14) (q10;q10)?
Pautau Syndrome
5 of 19
Which disorder has the genotype 45X or 46Xi(X)(q10) or 45X/46XX?
Turner's Syndrome
6 of 19
Which disorder has the incidence rate 1:5000 births?
Turner's syndrome
7 of 19
Which disorder has the genotype 47XXY or 47XXY/46XY?
Klienfelter's syndrome
8 of 19
Which disorder has the incidence rate 1/1000?
Klienfelter's syndrome / 47XXX
9 of 19
What is the incidence rate for Down's Syndrome with a maternal age of 43?
1:50
10 of 19
What percentage of mother's abort spontaneously when the child has Down's Syndrome?
60%
11 of 19
What percentage of children born with Down's syndrome have primary trisomy 21?
95%
12 of 19
What is the incidence rate of Edward's Syndrome when the maternal age is 43?
1:500
13 of 19
What percentage of babies with Edward's Syndrome die in the first month of life?
30%
14 of 19
What percentage of babies with Edward's syndrome die in the first year of life?
90%
15 of 19
What percentage of babies with Patau Syndrome die in the first month of life?
45%
16 of 19
What percentage of babies born with Patau Syndrome die within the first year of life?
85%
17 of 19
What percentage of mother's abort spontaneously when they have a baby with Turn'er Syndrome?
99%
18 of 19
Which disorder has no maternal age effect?
Turner's Syndrome
19 of 19

Other cards in this set

Card 2

Front

Which disorder can be caused by translocation leading to a genotype 46Xn der(14;21) (q10;q10) + 21

Back

Down's Syndrome

Card 3

Front

Which disorder is caused by primary Trisomy 18?

Back

Preview of the front of card 3

Card 4

Front

Which disorder is caused by primary Trisomy 13?

Back

Preview of the front of card 4

Card 5

Front

Which disorder can also be caused by a translocation leading to a genotype 46 Xn +13 der(13;14) (q10;q10)?

Back

Preview of the front of card 5
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