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CELS191 > Errors in Meiosis & X-inactivation-15 > Flashcards

Errors in Meiosis & X-inactivation-15 Flashcards

- Outline various chromosomal abnormalities (non- disjunction, aneuploidy, deletion, duplication, inversion, translocation) & their consequences in humans. - Describe how these chromosomal rearrangements happen & behave at meiosis, & state their contribution to birth defects in humans. v Define the term polyploidy. - Outline the concept of X-inactivation & explain the effects of odd numbers of chromosomes in meiotic segregation.

1
Q

Aneuploidy

A

Abnormal number of chromosomes.

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2
Q

Non-Disjunction

A

Chromosomes fail to split properly during meiosis.

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3
Q

Deletion (incl example)

A 
Removes Chromosomal segment. 
Lejeune syndrome (Cri du chat) removes tip of short arm of chromosome 5.
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4
Q

Duplication

A

Repeats chromosomal segment.

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5
Q

Inversion

A

Reverses segment in chromosome.

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6
Q

Translocation (incl examples)

A

Moves segment from one chromosome to a nonhomologous chromosome.
Chronic Myeloid Leukemia-Philadelphia Translocation t(9:22) cause TK overexpression.
Familial Down Syndrome t(14:21).

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7
Q

Familial Down Syndrome (incl Karyotype)

A

t(14:21).
Centric fusion=Robertson translocation swaps segments between chromosomes.
46 chromosomes translocation of 21.

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8
Q

Down Syndrome (Aneuploid)

A 
Trisomy 21.
1/750 live births.
Mothers >45 have 40% all cases.
95% have 2 maternal chromosomes 21.
Affects M&F.
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9
Q

Aneuploid examples (excl DS)

A

Klinefelter XXY- affects M, 1/1000, feminine physique.

Turner Syndrome XO-affects F, 1/5000

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10
Q

Centric fusion

A

Robertson translocation swaps segments between chromosomes.

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11
Q

Translocation

  • Chronic Myeloid Leukemia
  • Familial Down Syndrome
A
  • Philadelphia Translocation t(9:22) cause TK overexpression.
  • Familial Down Syndrome t(14:21).
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12
Q

Lejeune syndrome (Cri du chat)

A

Deletion example

removes tip of short arm of chromosome 5.

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CELS191 (11 decks)

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