Lecture 17 - QF PCR Flashcards

1
Q

What is aneuploidy

A

the gain or loss of a chromosome

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2
Q

What is monosomy

A

the loss of a chromosome

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3
Q

What is disomy

A

two copies of a chromosome

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4
Q

What is trisomy

A

three copies of a chromosome

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5
Q

What is non-disjunction

A

the failure of one or more pairs of homologous chromosomes to separate normally during nuclear division resulting in an abnormal distribution of chromosomes

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6
Q

What is turner syndrome

A
  • 45 , X
  • caused by paternal non-disjunction
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7
Q

What is the frequency of turner syndrome

A

1 in 2500 newborn girls

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8
Q

What is the phenotype of turner syndrome

A

-short stature
-webbed neck
-low hairline
-loss of ovarian function
-cardiac defects
-kidney disease
-normal intelligence

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9
Q

What is klinefelter syndrome

A
  • 47, XXY
  • caused by paternal and maternal non-disjunction
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10
Q

What is the phenotype of klinefelter syndrome

A
  • tall with long limbs
  • small testes and penis
  • breast growth
  • decrease sexual interest
  • lower than average intellignece
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11
Q

what is the frequency of klinefelter syndrome

A

1/650 newborn boys in the US

1-2/1000 live male births in the UK

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12
Q

What is trisomy X

A
  • 47, XXX
  • caused by maternal non-disjunction
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13
Q

What is the phenotype of trisomy X

A
  • taller than average
  • developmental delays
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14
Q

What is the frequency of trisomy X

A

1/1000 female births in canada and the us

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15
Q

What is Jacob syndrome

A
  • 47, XYY
  • caused by paternal non-disjunction or post-zygotic cleavage errors
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16
Q

What is the phenotype of Jacob syndrome

A
  • tall
  • enlarged head
  • anti-social
  • learning disabiliities
  • usually fertile
17
Q

What is the frequency of jacob syndrome

A

1 in 1000 live male births

18
Q

What is patau syndrome

A
  • 47, XX+13 or 47, XY+13
  • caused by non-disjunction of either parent
19
Q

What is the phenotype of patau syndrome

A
  • small eyes
  • extra digits
  • cleft palate
  • heart and CNS defects
20
Q

What is the frequency of patau syndrome

A

1/16 000 newborns

~90% of infants die within a year

21
Q

What is edwards syndrome

A
  • 47, XX+18 or 47, XY+18
  • caused by maternal non-disjunction
22
Q

What is the phenotype of edwards syndrome

A
  • small, long head
  • small mouth
  • underweight
  • feeding and breathing problems
  • heart and genitorinary issues
  • severe cognitive impairment
23
Q

What is the frequency of edwards syndrome

A

1/5000 newborns

~90% of infants die within a year

24
Q

What is downs syndrome

A
  • 47, XX+21 or 47, XY+21
  • caused by maternal non-disjunction
25
Q

What is the phenotype of downs syndrome

A
  • craniofacial abnormalities
  • early-onset alzheimers
  • mild to moderate cognitive impairment
26
Q

What is the frequency of downs syndrome

A

1/700 newborns

27
Q

What are short tandem repeats

A

short nucleotide sequences that repeat multiple times

28
Q

How can we determine STR

A

amplification via PCR that produces products of variable sizes

29
Q

How is monosomy seen in STR

A

one PCR product

30
Q

How is disomy seen in STR

A

two PCR products

31
Q

How is trisomy seen in STR

A

three PCR products