Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Pathology Block 11 > Genetic Diseases > Flashcards

Genetic Diseases Flashcards

1
Q

Compare/contrast the usual inheritance patterns and physiologic effects of non-enzyme gene mutations vs enzyme gene mutations

A

Enzyme:

Non-enzyme:

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Predict the likelihood a genetic mutation will be passed to offspring based on its mode of inheritance

A

12

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Marfans:

  1. Etiology
  2. Pathogenesis
  3. Morphologic changes
  4. Clinical course
  5. Autosomal dominant or recessive
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Ehlers-Danlos

  1. Etiology
  2. Pathogenesis
  3. Morphologic changes
  4. Clinical course
  5. Autosomal dominant or recessive
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Familial hypercholesterolemia

  1. Etiology
  2. Pathogenesis
  3. Morphologic changes
  4. Clinical course
  5. Autosomal dominant or recessive
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

PKU

  1. Etiology
  2. Pathogenesis
  3. Morphologic changes
  4. Clinical course
  5. Autosomal dominant or recessive
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Galactosemia

  1. Etiology
  2. Pathogenesis
  3. Morphologic changes
  4. Clinical course
  5. Autosomal dominant or recessive
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Tay Sachs

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Niemann Pick type A

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Niemann Pick B

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Niemann Pick C

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Gauchers disease

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Hunter Syndrome - MPS

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Hurler/Scheie - MPS

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Von Gierke

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

McArdle

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

17
Q

Pompe

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

18
Q

Alkaptonuria

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

19
Q

Cystic fibrosis

  1. Pathology
  2. Clinical features
  3. Where is material stored
  4. Principal organ systems involved
A

1.

20
Q

Fragile X

  1. Description
  2. Clinical features
  3. Typical pedigree
A

1.

21
Q

Describe maternal inheritance

A

21

22
Q

Describe genomic imprinting

A

Env

23
Q

Clinical features of prader willi

A

1.

Pathology Block 11 (1 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions