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?

A

97%

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
Q

When does robertsonian translocation occur?

A

On acrocentric chromosomes

26
Q

What does robertsonian translocation result in?

A

One chromosome being very short, one being very long

27
Q

What are deletion mutations?

A

When sections of chromosomes disappear from 1 arm of the chromosome, or both

28
Q

What are paracentric inversions?

A

When a section if DNA in the arm of a chromosome is inverted

29
Q

What are pericentric inversions?

A

When the DNA around the centromere is inverted