Lecture 45 Flashcards Preview

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1

What types of mutations can karotyping detect?

Can detect deletions, duplications, inversions, translocations, other abnormalities

only large differences can be detected

2

What does a metracentric chromosome look like?

the centromere is in the middle

3

what does a submetracentric chromosome look like?

the centomere is not in the middle

4

what does an acrocentric chromosome look like?

presence of satellites

5

What can FISH probes detect?

Numerical chromosome aberrations
- Deletions
- Translocations
- Gene amplification

FISH probes are large

6

What is chromosome painting useful for?

can show translocation and rearrangements
very useful in cancer genetics

each chromosome is a diff color

7

What a the three types of euploidy?

1. diploidy
2. triploidy
3. tetraploidy

8

diploidy?

normal

9

triploidy?

not compatible with life

10

tetraploidy?

lethal

11

What are the two types of aneuploidy?

1. monosomy
2. trisomy

12

monosomy?

not compatible with life

exception: monosomy of X chromosome

13

trisomy?

one additional chromosome (47)

14

Trisomy 21?

down syndrome

15

symptoms of down syndrome?

intellectual disability, short stature, heart defects, depressed nasal bridge

16

risk factors of down syndrome?

increased maternal age (meiosis 1 non-disjunction)

17

Trisomy 18?

Edward syndrome

nondisjunction during oogenesis

18

symptoms of trisomy 18?

clenched fist, overlapping fingers

rocker bottom feet

heart defects

microcephaly

intellectual disability

19

Trisomy 13?

Patau syndrome

nondisjunction during oogenesis

20

features of trisomy 13?

1. polyadctyly

2. cleft lip and palate

3. microcephaly

4. intellectual disability

5. cardiac abnormalities

21

how does turners syndrome occur?

nondisjunction during spermatogenesis

22

What is mosaicism?

The presence of two or more populations of cells
in one individual with different genotypes