Genotype

Describe de novo variants

Describe somatic variations

Describe germline variation

What is autosomal inheritance?

Describe an autosomal dominant condition

What is reduced penetrance

What is an autosomal recessive condition

What is an X-linked condition

What is an X-linked dominant condition

Describe genetic heterogeneity

Described x-linked recessive variations

Male recessive x-linked

Describe mitochondrial genetic conditions

Describe chromosomal conditions

What are different structural changes to chromosomes

Describe multi factorial conditions

Describe genetic information and dna structure

What are coding regions

How many chromosomes are autosomal?

Describe mitosis

Describe meiosis

Describe the role of genomics in healthcare

Describe aneuploidity

What is an allele

Paired maternal and paternal copies of a gene

What is a genotype

Organisms genetic makeup, due to the combination of alleles

Phenotype

Physical traits of an organism due to genotype and environment

Homeozygous

Teo identical alleles for a particular gene eg. DD

Heterozygous

Two diff alleles for the same gene eg. Dd

What’s epigenetics

Describe spontaneous genetic variation

Describe a carcinogenic mutation