Aneuploidy Flashcards Preview

Developmental Genetics > Aneuploidy > Flashcards

Flashcards in Aneuploidy Deck (34):
1

What can chromosomal abnormalities result in?

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2

Define aneuploidy.

The presence of an abnormal number of chromosomes in a cell.

3

Define the two types of risk.

Mendelian - based on clear mode of inheritance.
Emperic - based on observed frequency of events in a population.

4

In terms of emperic risk, what are the incidence of genetic disease in population?

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5

What are the frequencies of the different chromosomal abnormalities in births?

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6

What are the types of abnormalities in chromosomal integrity?

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7

What causes aneuploidy and how can it be detected?

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8

What is nondisjunction? What does it result in?

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9

Define rearrangement.

Translocation and deletion.
- Transfer of a piece of one chromosome to another or loss of fragment of a chromosome.

10

Diagram of nondisjunction in meiosis I.

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11

Diagram of nondisjunction in meiosis II.

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12

Trisomy 21 predominantly originates from maternal meiosis.
True or False?

True.
85-90% from maternal meiosis.

Maternal = 75% meiosis I, 25% meiosis II.

Paternal - 25% meiosis I and 75% at meiosis II.

13

What are the origins of trisomy 21?

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14

4% of down syndrome are from what?

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15

What are the possible outcomes of aneuploid gametes?

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16

True or False.
Mitosis can proceed independent of ploidy of cell, homologous chromosomes behave independently.

True.

17

True or False.
Meiosis can only proceed if the nucleus contains an even number of chromosomes.

True.

18

Trisomy 21 does not prevent meiosis.
True or False.

True.

19

What are the dsitribution of chromosomal abnormalities in early abortion?

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20

Which chromosomes can result in the live birth of a child with trisomy?

21, 13, 18.

21

Characteristics and features of down syndrome.

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22

What is Patau syndrome? What are characteristics and features of Patau syndrome?

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23

What is Edwards syndrome?
What are its characteristics and features?

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24

What is Klinefelter Syndrome? What are the characteristics and features of klinefelter syndrome?

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25

General procedure to identify chromosomal abnormalities?

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26

What are principles of a screening program?

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27

What are antenatal procedures for screen with down syndrome?

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28

What is Nuchal translucency?

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29

How do find likelihood of aneuploidy pregnancy from MoM?

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30

What is the typical second trimester screening protocol?

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31

What are the two methods in investigating amniotic fluid cells for cytogenetics?

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32

Process of FISH.

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33

When is karotype analysis preferably used? Process.

- G-banding.

34

What is the non-invasive prenatal detection method and methodology?

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