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ABGC2 > Disorders (1) > Flashcards

Disorders (1) Flashcards

1
Q

What is the incidence of Down syndrome?

A

1/700 live births

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2
Q

What percentage of Down syndrome does not result from trisomy 21?

A

5%

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3
Q

Where in the cell cycle is it most likely an error occurred that led to Down syndrome?

A

meiosis II

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4
Q

What is the most common translocation which leads to Down syndrome?

A

Robertsonian 14;21

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5
Q

If mom has a Robertsonian translocation, what is the risk for Down syndrome?

A

10-15%

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6
Q

In addition to heart problems and obesity, list 7 things people with Down syndrome are at increased risk for:

A
  • Alzheimer’s disease
  • gastrointestinal problems
  • hearing loss
  • eye problems
  • hypothyroidism
  • hip dislocation
  • leukemia
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7
Q

What is the incidence of trisomy 18?

A

1/7,500 live births

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8
Q

What gender is more common in trisomy 18?

A

female (80%)

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9
Q

What percentage of cases of trisomy 18 are due to unbalanced translocations?

A

1%

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10
Q

Which trisomy is most associated with CNS malformations?

A

trisomy 13

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11
Q

What is the incidence of trisomy 13?

A

1/20,000 live births

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12
Q

What percentage of cases of trisomy 13 are due to unbalanced translocations?

A

20%

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13
Q

What is the mode of inheritance for myotonic dystrophy (types 1 & 2)?

A

autosomal dominant

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14
Q

What triplet is repeated to cause DM1 and where is it located?

A

CTG in the 3’ UTR of the DMPK gene

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15
Q

Does anticipation occur in DM1, DM2?

A

DM1: yes, maternal
DM2: no

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16
Q

What may be the single feature of a mild case of myotonic dystrophy?

A

cataracts

17
Q

Which form of myotonic dystrophy has a normal life expectency?

A

DM2

18
Q

In which form of myotonic dystrophy does the repeat number correlate with severity of symptoms?

A

DM1

19
Q

Does anticipation occur in Huntington’s disease?

A

yes, paternal

20
Q

What triplet repeat causes Huntington’s disease when expanded?

A

CAG in exon 1 of the HTT gene ; causes polyglutamine probably with a toxic gain of function effect

21
Q

What proportion of mothers of boys affected with DMD are carriers vs. occurance of de novo mutations?

A

2/3 carriers

1/3 de novo

22
Q

What are the IQ implications of DMD?

A

a drop of ~10-20 points

23
Q

Are proximal or distal muscles more affected in DMD?

A

proximal are more affected

24
Q

Other than muscle problems, what other features affect boys with DMD?

A
  • cardiomyopathy
  • respiratory problems
  • slightly lower IQ (down ~10-20 points)
25
Q

Do female carriers of DMD have an elevated CK?

A

yes, they can, but it depends on X-inactivation

26
Q

What is the cutoff between early and late onset Alzheimer’s

A

60y

27
Q

Which APOE allele is a risk factor and which is protective?

A

e4: risk factor
e2: protective

28
Q

What is the physiological problem in Wilson disease?

A

inability to metabolize copper

29
Q

What are the main features of Wilson disease?

A
  • liver failure

- neurologic symptoms

30
Q

What is the mode of inheritance of Wilson disease?

A

AR

31
Q

What is the lifespan in Timothy syndrome?

A

~2.5 years

32
Q

What is the inheritance pattern of Parkinson disease?

A

all types: AD, AR, multifactorial

33
Q

At what age does juvenile-onset Parkinson disease onset?

A

20-40 y

34
Q

What are three features of congenital DM1?

A
  • reduced fetal movements
  • DD
  • MR
35
Q

What is the average age of onset of Huntington’s disease? How long is the lifespan after onset?

A

35 - 44y onset

+ 15-18 years

36
Q

For Huntington’s disease, what are the repeat cutoffs for the following categories?

  • intermediate
  • incomplete penetrance / late onset
  • affected
  • juvenile onset
A
  • intermediate: 29
  • incomplete penetrance / late onset: 36
  • affected: 40
  • juvenile onset: 60
37
Q

For DM1, what are the repeat cutoffs for the following categories?

  • premutation
  • mild
  • classic
  • congenital
A
  • premutation: 35
  • mild: 50
  • classic: 100
  • congenital: 1000
38
Q

For DM2, what range of repeat number is found in affected individuals?

A

75 - 11,000

39
Q

Which type of heart problem is most common in DMD?

A

dilated cardiomyopathy

ABGC2 (12 decks)

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