Clinical Genetics Flashcards by Max Kam

Q

Mendelian inheritance
Types

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Family pedegree notation

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Autosomal dominant

Define
Chance of disease
Factor of expression

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Autosomal recessive

Definition
Chance of disease
Factor of expression

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

X-link recessive/ Dominant, Y inheritancce

Definition
Chance of disease

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Trinucleotide repeats

Definition
Examples

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Fragile X

Pathogenesis
Clinical features
Dx

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Mitochondrial inheritance

Pathogenesis
Presentation
Examples

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Imprinting gene/ uniparental gene

Pathogenesis

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Prader-Willi syndrome

Cause
Clinical features
Tx

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Angelman syndrome

Genetic cause
Clinical features

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Russel silver syndrome

Genetic cause
Clinical presentation

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Multifactorial inheritance

Genetic mechanism

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Types of genetic tests

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Genetic counselling

Function

A

How well did you know this?

1

Not at all

2

3

4

5

Perfectly

Q

Down syndrome

Genetic mechanisms

Study These Flashcards

A

Q

DS

Clinical features

Study These Flashcards

A

Q

Down Syndrome

Mx

Study These Flashcards

A

Q

Edward syndrome

Genetic cause
Clinical presentation

Study These Flashcards

A

Q

Patau syndrome

Genetic cause
Clinical presentation

Study These Flashcards

A

Q

Turner syndrome

Genetic cause
Clinical features

Study These Flashcards

A

Q

Turner syndrome

Mx

Study These Flashcards

A

Q

Klinefelter syndrome

Genetic cause
Clinical features

Study These Flashcards

A

Q

Chromosomal structural disorders

Types
Presentation

Study These Flashcards

A

Noonan syndrome Genetic cause Clinical presentation

Overgrowth syndromes Hx PE

Beckwith-Wiedemann syndrome Genetic cause Clinical presentation

Sotos syndrome Genetic cause Clinical presentation

Segmental overgrowth syndrome Examples

Williams syndrome Genetic cause Clinical features

Cri du Chat syndrome Genetic cause Clinical presentation

DiGeorge syndrome Genetic cause Clinical presentation