Pedigree

Question 1

Graphical representation of family tree

*The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition

Answer 1

Pedigree

Question 2

Why is a pedigree useful?

Answer 2

It is useful for identifying possible patterns of inheritance and estimating genetic risks to current and future family members

Question 3

Proband

Answer 3

The affected individual through whom a family with a genetic disorder is ascertained; may or may not be consultand

Question 4

Consultand

Answer 4

The individual (not necessarily affected) who presents for genetic evaluation and through whom a family with an inherited disorder comes to attention

Question 5

Consanguinity

Answer 5

Identifies cases of genetic relatedness between individuals descended from at lease one common ancestor (e.g. first cousins)

Question 6

Single gene disorders are also called

Answer 6

Mendelian disorders

Question 7

Phenotype

Answer 7

The observable expression (of a genotype) as a morphological, clinical, or biochemical trait

Question 8

Genotype

Answer 8

The set of alleles that make up his or her constitution (usually we are talking about a single locus)