aneuploidy Flashcards

1
Q

aneuploidy

A

diploid genome which lacks a chromosome or has an extra chromosome

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2
Q

how is aneuploidy different from polyploidy

A

organism gains or is missing a single chromosome whereas in polyploidy all sets are affected

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3
Q

trisomies

A

2N+1
- diploid for all chromosomes but +1 chromosome for one of the homologous groups
- some result in aborted embryo

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4
Q

monosomies

A

2N-1
- diploid for all chromosomes but -1 for one of the homologous groups

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5
Q

when is it a possibility for trisomies or monosomies to be viable

A

when they are sex chromosomes

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6
Q

cause of aneuploidy

A

meitotic or meiosis non disjunction

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7
Q

aneuploidy from nondisjunction in meiosis I

A
  • all gametes are wrong
  • homologous pairs do not disjoin
  • final zygotes are 2 trisomies and 2 monosomies
  • all monosomies are aborted except sex chromosomes
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8
Q

aneuploidy from nondisjunction in meiosis II

A
  • half the gametes are wrong
  • sister chromatids will not disjoin
  • final zygotes are 1 trisomie, 1 monosomie and 2 normal diploids
  • if happens to one cell usually doesn’t happen to the other - low frequency event
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9
Q

autosomal trisomies that are seen as live births

A

trisomy 21 (down syndrome)
trisomy 13 (Patau syndrome)
trisomy 18 (Edwards syndrome)
- only those with trisomy 21 can live into adulthood

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10
Q

down syndrome karyotype

A
  • chromosome 21 is one of the smallest chromosomes
  • most trisomy can be tolerated because it is the smallest amount of extra genes - still bad but the least bad
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11
Q

Aneuploidy in sex chromosomes

A
  • trisomy and monosomy can be tolerated
  • comes from X inactivation
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12
Q

XO - turner syndrome

A
  • female with a single X
  • can be caused by the mom or dad
  • 2n - 1
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13
Q

XXY - klein felter syndrome

A
  • male with an extra X
  • 1 barr body
  • mom could give XX or day could give XY
  • if from dad, nondisjunction in meiosis I
  • some female hormones are heightened
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14
Q

XXX - triple X syndrome

A
  • female with an extra X
  • mom gives XX
  • 2 barr bodies
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15
Q

XYY - double Y males

A
  • male with an extra Y
  • gets YY from dad, nondisjunction in meiosis II
  • most common phenotype = very tall (due to extra hormones)
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16
Q

why are older mothers more likely to give birth to down syndrome children

A

frequency of trisomies increases due to prophase arrest
- in the human female fetus meiosis begins and arrests, germ cells remain in an arrested prophase I until ovulation
- stalled gametes are constantly exchanging genetic material through recombination which causes them to break apart from mitotic spindle

17
Q

prophase arrest

A

problems with pairing of homologous chromosomes

18
Q

correlation between trisomies and maternal age

A
  • bivalents with crossovers near the ends of chromosomes are fragile and increasingly unstable over time
  • if the bivalent dissociates, non-disjunction of the homologues occur
19
Q

cohesion

A

non-disjunction between sister chromatids

20
Q

what sorts of chemicals can cause non-disjunction

A

colchicine and Bisphenol A

21
Q

causes of down syndrome

A
  • 96% due to meiotic nondisjunction
  • of these, 80% from oogenesis in the mother and 20% from spermatogenesis in the father
  • in males due to random chance, in females due to prolonged prophase I
22
Q

deletions / deficiency in chromosome segment

A
  • missing part of the chromosome
  • could be due to mistakes in how they are copied
23
Q

duplication in chromosome segment

A
  • an extra part of the chromosome
  • hyperploidy
24
Q

hyperploidy and hypoploidy

A

hypoploidy: less genetic material
hyperploidy: more genetic material

25
Q

Hypoploidy example: cri-du-chat syndrome

A
  • missing the tip of one chromosome 5, due to mistake in DNA replication
  • grow into adulthood with developmental disorder