A/52 Flashcards
1
Q
Types of diseases with atypical inheritance (3)
A
- Diseases due to triplet repeat mutations
- Diseases due to mitochondrial gene mutation
- Diseases due to changes of imprinted region of genome
2
Q
Diseases due to triplet repeat mutations (2)
A
- fragile X syndrome
- Huntington’s disease
3
Q
What is an example of a disease due to mitochondrial gene mutation?
A
Leber hereditary optic neuropathy
4
Q
Examples of diseases due to changes of imprinted regions of genome
A
- Prader Willi syndrome
- Angelman syndrome
5
Q
What is Prader Willi syndrome?
A
deletion of band q12 on chromosome 15 of only the paternal chromosome + imprinting on mother’s chromosome
6
Q
What is Angelman syndrome?
A
deletion of band q12 on chromosome 15 of only the maternal chromosome + imprinting on father’s chromosome
7
Q
Characteristics of PW syndrome? (5)
A
- Mental retardation
- Obesity
- Short stature
- Hypotonia
- Small hands and feet
8
Q
Characteristics of Angelman syndrome? (4)
A
- Mental retardation
- Ataxic gait
- Seizures
- Inappropriate laughter
