Clinical Genetics Flashcards

1
Q

Mendelian inheritance
Types

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

Family pedegree notation

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

Trinucleotide repeats

Definition
Examples

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

Fragile X

Pathogenesis
Clinical features
Dx

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

Mitochondrial inheritance

Pathogenesis
Presentation
Examples

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

Imprinting gene/ uniparental gene

Pathogenesis

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

Prader-Willi syndrome

Cause
Clinical features
Tx

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

Angelman syndrome

Genetic cause
Clinical features

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

Russel silver syndrome

Genetic cause
Clinical presentation

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

Multifactorial inheritance

Genetic mechanism

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

Types of genetic tests

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

Genetic counselling

Function

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

Down syndrome

Genetic mechanisms

A
17
Q

DS

Clinical features

A
18
Q

Down Syndrome

Mx

A
19
Q

Edward syndrome

Genetic cause
Clinical presentation

A
20
Q

Patau syndrome

Genetic cause
Clinical presentation

A
21
Q

Turner syndrome

Genetic cause
Clinical features

A
22
Q

Turner syndrome

Mx

A
23
Q

Klinefelter syndrome

Genetic cause
Clinical features

A
24
Q

Chromosomal structural disorders

Types
Presentation

A
25
Q

Noonan syndrome

Genetic cause
Clinical presentation

A
26
Q

Overgrowth syndromes

Hx
PE

A
27
Q

Beckwith-Wiedemann syndrome

Genetic cause
Clinical presentation

A
28
Q

Sotos syndrome

Genetic cause
Clinical presentation

A
29
Q

Segmental overgrowth syndrome

Examples

A
30
Q

Williams syndrome

Genetic cause
Clinical features

A
31
Q

Cri du Chat syndrome

Genetic cause
Clinical presentation

A
32
Q

DiGeorge syndrome

Genetic cause
Clinical presentation

A