13. GENETIC DISORDERS AND CHROMOSOMAL ABNORMALITIES Flashcards
1
Q
- Name the 6 types of Genetic Disorders?
A
- Autosomal Recessive Disorders
- Autosomal Dominant Disorders
- X-Linked Recessive Disorders
- X-Linked Dominant Disorders
- Y-Linked Disorders
- Mitochondrial Disorders
2
Q
- List the 5 Autosomal Recessive Disorders?
A
- Cystic Fibrosis
- Sickle Cell Anaemia
- Alpha (⍺) Thalassaemia
- Beta (β) Thalassaemia
- Albinism
3
Q
- List the 2 Autosomal Dominant Disorders?
A
- Huntington’s Disease
- Achondroplasia
4
Q
- List the 3 X -Linked Recessive Disorders?
A
- Haemophilia
- Colour Blindness
- Duchenne Muscular Dystrophy
5
Q
- List the 2 X-Linked Dominant Disorders?
A
- Vitamin D Resistant (Hypophosphataemic) Rickets
- Alport Syndrome
6
Q
- List the 1 Y-Linked Disorder?
A
- Swyer Syndrome
(XY Gonadal Dysgenesis)
7
Q
- List the 2 Mitochondrial Disorders?
A
- Mitochondrial Myopathy
- Leber’s Optic Neuropathy
8
Q
- Name the 4 types of Chromosomal Abnormalities?
A
- Autosomal Aneuploidy
- Sex Chromosome Aneuploidy
- Autosomal Structural Abnormality
- Sex Chromosome Structural Abnormality
9
Q
- List the 3 Autosomal Aneuploidy Abnormalities?
A
- Down Syndrome
- Edward Syndrome
- Patau Syndrome
10
Q
- What is Aetiology of Down Syndrome?
A
- Trisomy 21
11
Q
- What is Aetiology of Edward Syndrome?
A
- Trisomy 18
12
Q
- What is Aetiology of Patau Syndrome?
A
- Trisomy 13
13
Q
- List the 2 Sex Chromosome Aneuploidy Abnormalities?
A
- Klinefelter Syndrome
- Turner Syndrome
14
Q
- What is the Aetiology of Klinefelter Syndrome?
A
- XXY
15
Q
- What is the Aetiology of Turner Syndrome?
A
- XO
- this is a type of Monosomy