Meiosis and Chromosome Abnormalities Flashcards

1
Q

What is the process of Meiosis? (PMAT-PMAT)

A
  • Prophase 1
  • Metaphase 1
  • Anaphase 1
  • Telophase 1
  • Prophase 2
  • Metaphase 2
  • Anaphase 2
  • Telophase 2
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2
Q

Description of the first PMAT

A
  • Almost same as mitosis
  • Non-sister chromatids touch at points called chiasmata
  • Crossing over and recombination occurs
  • This results in variation
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3
Q

Description of second PMAT

A
  • Similar to first but DNA is not copied or crossed over

- Results in 4 haploid cells

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4
Q

How many sperm cells are formed per meiotic cycle?

A

4

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5
Q

How long does the meiotic cycle to produce the 4 sperm cells take?

A

60 days

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6
Q

Why do more mutations occur in spermatogenesis than oogenesis?

A

Sperm undergo far more divisions that ova so there is a greater mutation chance

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7
Q

What does each meiotic division of an ova produce?

A
  • 1 ovum

- 3 polar bodies

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8
Q

What do these polar bodies become later in life?

A

Ova

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9
Q

When does spermatogenesis begin?

A

Puberty

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10
Q

When does oogenesis begin?

A

Early embryonic life

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11
Q

What does non disjunction mean?

A
  • Sister chromatids don’t split during meiosis

- Results in both of them being present in one gamete

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12
Q

What is caused by trisomy 21?

A

Down’s Syndrome

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13
Q

What are some common characteristics of down syndrome?

A
  • Facial characteristic

- IQ less than 50

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14
Q

What % of down syndrome, Patau syndrome and Edward’s syndrome is caused by non disjunction

A

90%

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15
Q

What is caused by trisomy 13?

A

Patau Syndrome

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16
Q

Common features of Patau syndrome?

A
  • Dysmorphic features

- Death in first year of life

17
Q

What is caused by trisomy 18?

A

Edward’s Syndrome

18
Q

What usually happens to people with Edward’s syndrome

A

Death within the first month of life

19
Q

What condition is characterised by a single X chromosome (monosomy X)?

A

Turner syndrome

20
Q

What are common characteristics of turner syndrome?

A
  • Short stature
  • Infertile
  • Neck webbing
  • Widely spaced nipples
  • Normal intelligence and lifespan
21
Q

What percentage of zygotes normally terminate at conception when monosomy X is present?

22
Q

What condition is caused by trisomy XXY?

A

Klinefelter Syndrome

23
Q

What are common characteristics of Klinefelter syndrome?

A
  • Tall stature
  • Infertile
  • Small testes
  • 50% develop breasts
  • Mild learning difficulties
24
Q

What is the development of breasts called?

A

Gynaecomastia

25
When does robertsonian translocation occur?
On acrocentric chromosomes
26
What does robertsonian translocation result in?
One chromosome being very short, one being very long
27
What are deletion mutations?
When sections of chromosomes disappear from 1 arm of the chromosome, or both
28
What are paracentric inversions?
When a section if DNA in the arm of a chromosome is inverted
29
What are pericentric inversions?
When the DNA around the centromere is inverted