Genotype

Locus

Phenotype

Germ cells

Haploid

Different forms of the same gene may encode different forms of the same protein: True of False

Malformation

Dismorphology

Congential

In disease pedigrees which symbol represents a diseased person

In disease pedigrees which symbol represents a female

In disease pedigrees which symbol represents a male

In disease pedigrees which symbol represents a carrier

In disease pedigrees which symbol represents a deceased person

In disease pedigrees which symbol represents closely related people

In disease pedigrees which symbol represents a miscarriage

In disease pedigrees which symbol represents a termination

In disease pedigrees which symbol represents a stillbirth

In disease pedigrees which symbol represents an adopted person

What is Mendel's first law of inheritance

What is Mendel's second law of inheritance

What is Mendel's third law of inheritance

Monogenic (single gene) disorders (Mendelian)

What are the 3 characteristic pedigree patterns for monogenic disorders

Autosomal recessive inheritance

What needs to be considered in autosomal recessive inheritance

Autosomal Dominant inheritance

In autosomal disorders what is: Penetrance

In autosomal disorders what is: Expressivity

In autosomal disorders what is: Anticipiation

Somatic mosaicism

Germline mosaicism

Sex linked disorders

What are males described as being, in regard to sex chromosomes

Genes on the Y chromosome can be transmitted to both Y and X chromosomes: True or False.

All sons of a father with a Y linked disease Will get the disease. True or False.

The Y chromosome is rich in genes: True or False

What are most Y liked defects associated with

Recessive X linked inheritance

The father with an X linked recessive disease will pass the disease on to both his sons and daughters: True or False

Dominant X linked inheritance

Rett syndrome

Genomic imprinting

When do genetically imprinted genes cause disease

Uniparental disomy

Physical basis of mutations: Nucleotide substitution

Physical basis of mutations: Nucleotide deletion/insertion

Copy Number Variation

What are copy number variation disorders known as

Hereditary haemochromatosis

Hereditary haemochromatosis diagnosis

What would you used to detect a known mutation without DNA sequencing

What can cytogenic karyotype analysis be used to look for

FISH analysis

DiGeorge syndrome

Molecular diagnosis of DiGeorge syndrome

a-CGH