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17 Cards in this Set

  • Front
  • Back
Consanguinity
descent from a single common ancestor
Penetrance
The frequency, under given environmental conditions, with which a specific phenotype is expressed by those individuals with a specific genotype
Expressivity
the degree to which a particular gene produces its effect in an organism
Pedigree Analysis:
Circle
Square
Diamond
Number inside shape
girl
boy
sex unknown
# of siblings
PA:
P
Strikethrough
SB
Arrow
Arrow + P
pregnant
death
stillbirth
person seeking counseling
first affected family member coming to medical attention
Pedigree construction:
partners
relationship no longer exists
siblings
preg not carried to term
male on left
Break in relationship line
listed left to right in birth order
triangle w/line shortened compared to siblings
twins
vertical line split
family history unknown
Question mark on top
no descendents
upside down 'T'
double line = infertility
adoption
Brackets
use dashed and solid lines for extramarital social and biological relationships
SAB
spontaneous abortion
TOP
termination of pregnancy
Consanguinity
marriage or mating between two persons that are ‘blood relatives’, meaning they have at least one relative in common
Incest
mating between two first degree relatives
1st degree relatives
mom, dad, siblings
2nd degree relatives
anyone who contributes to your DNA, offspring of a contributor, or who contains part of your DNA that isn’t primary: grandparent, aunts/uncles, nieces/nephews, grandchildren, half siblings
3rd degree
first cousins, great aunts and uncles