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Flashcards in Pedigree Deck (8)
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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

Pedigree

2

Why is a pedigree useful?

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

3

Proband

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

4

Consultand

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

5

Consanguinity

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

6

Single gene disorders are also called

Mendelian disorders

7

Phenotype

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

8

Genotype

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