Genetics - multisystem disease (SEE TABLE)

Question 1

Many genetic disorders affect more than one system.

Management requires attention to disease in all systems.

Genetics, molecular pathology and management of genetic disorders that affect multiple systems will be discussed using examples of Neurofibromatosis Type 1, tuberous sclerosis, Marfan syndrome.

Answer 1

.

Question 2

List 4 genetic multi-system disorders

Answer 2

Neurofibromatosis Type 1
Myotonic dystrophy
Tuberous sclerosis
Marfan syndrome

Question 3

Tuberous sclerosis, NF1 and myotonic dystrophy are examples of what type of inheritance

Answer 3

Autosomal dominant

Question 4

Modes of inheritance (3)

Answer 4

Chromosomal, i.e. numerical, translocation, deletion

Single gene, i.e. autosomal dominant/recessive, X-linked

Multifactorial, i.e. polygenic, environmental (e.g. T2DM)

Question 5

See table for rest

Answer 5

.