Disorders (2) Flashcards

(39 cards)

1
Q

What is the molecular cause of fragile X?

A

CGG repeat expansion in FMR1 gene leading to methylation of the gene

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2
Q

What is the breakdown of repeat numbers in fragile X syndrome?

A
  • intermediate = 45-54
  • premutation = 55-200
  • full mutation = >200
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3
Q

Name 9 features of fragile X syndrome

A
  • DD
  • MR
  • autistic features
  • hand flapping
  • prominent jaw
  • prominent forehead
  • big ears
  • long face
  • machroorchidism
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4
Q

What percentage of people with fragile X syndrome have a repeat expansion

A

> 99%

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5
Q

Does anticipation occur in fragile X syndrome?

A

yes, with maternal transmission

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6
Q

Order the following from most to least heritable: schizophrenia, major depressive disorder, bipolar disorder,

A
  • bipolar: up to 93%
  • schizophrenia: up to 90%
  • major depressive: up to 42%
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7
Q

Are most triplet repeat expansions located in the coding or noncoding regions?

A

noncoding;

exceptions: HD, SCA

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8
Q

What is the inheritance pattern of Friedrich’s ataxia?

A

AR

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9
Q

What triplet repeat causes Friedrich’s ataxia and where in the gene is it located?

A

GAA repeat

noncoding region

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10
Q

When does Friedrich’s ataxia typically onset?

A

between 1 and 15 years

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11
Q

Does expansion occur in Friedrich’s ataxia?

Anticipation?

A

expansion through maternal transmission,

no anticipation

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12
Q

What percentage of ALS is familial?

A

10%

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13
Q

What is the average age on onset of familial ALS?

A

46 y

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14
Q

What percentage of ALS patients develop FTD?

A

20%

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15
Q

Name 6 main features of Rett syndrome

A
  • regression of language
  • regression of motor skills
  • hand movements
  • seizures
  • acquired microcephaly
  • prolonged QT
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16
Q

What are the subtypes and corresponding inheritance patterns for LGMD?

A

LGMD1: AD inheritance
LGMD2: AR inheritance

17
Q

What is the natural history of Meckel-Gruber syndrome?

A

neonatal lethal

18
Q

What 7 things should be ruled out when considering an Alzheimer’s diagnosis?

A
  • thyroid disease
  • vitamin deficiency
  • brain tumor
  • drug intoxication
  • chronic infection
  • depression
  • stroke
19
Q

What percentage of achondroplasia cases are de novo?

20
Q

What is the protein substitution that causes nearly all cases of achondroplasia?

21
Q

What are drusen?

A

small deposits in the eye which are the hallmark feature on exam for age-related macular degeneration

22
Q

What type of vision does age-related macular degeneration affect?

23
Q

What is the inheritance pattern of CHARGE syndrome?

24
Q

What are the main features of CHARGE syndrome?

A
Coloboma
Heart defects
Atresia of the choanae
Retardation of growth and development
Genital abnormalities
Ear anomalies
25
What does atresia of the choanae mean?
blockage of the nasal passage
26
What are two acronym disorders with clinical overlap?
VATER and CHARGE
27
What is the natural history of CHARGE syndrome?
often mortality in the first year of life (20-25%)
28
What disease is the Philadelphia chromosome associated with?
chronic myelogenous leukemia
29
What is the Philadelphia chromosome?
translocation t(9;22) causing a fusion of two genes to create the fusion gene BRC-ABL
30
What is the therapy for chronic myelogenous leukemia?
bone marrow transplant
31
What is the risk of a sibling of someone with Crohn disease to be affected?
1-8%
32
What is a Kayser-Fleicher ring and what disorder is it associated with?
a dark ring in the iris due to copper deposits seen in Wilson disease
33
What are 4 main features of Timothy syndrome?
- cardiac (long QT, CHD) - hand/foot syndactyly - distinct facial features - neurodevelopmental delay / ASD
34
What type of Parkinson's disease is PARK2 associated with?
juvenile onset
35
What percentage of all Parkinson's disease cases have a positive family history?
15%
36
In fragile X syndrome, what are the cutoffs for a premutation (surrounded by intermediate and full mutation)?
55 - 200
37
What are 3 features of Meckel-Gruber syndrome?
- occipital encephalocele - cystic kidneys - postaxial polydactyly
38
What is the natural history of CHARGE syndrome?
20-25% mortality in first year of life
39
What subpopulation has a higher risk of Crohn disease?
Ashkenazi jewish