Medical Genetics Flashcards
what is a male represented as?
square
what is a female represented as?
circle
what is a female carrier of an x linked recessive gene represented by?
small shaded dot in the middle of the circle
what is a proband?
person who brings the family to the attention of genetic services
how is a proband represented?
an arrow
what is the consultand?
who has came for the advice?
shown by letter C
what is a pregnancy represented by?
diamond
what is a miscarriage represented by?
small black dot
what are twins identified by?
line connected for identical
what are some features of dominant genes?
-multiple generations affected (vertical pattern of inheritance)
what would a horizontal pattern of inheritance indicate?
recessive condition
how can we rule out if a disease is autosomal?
a man has passed it on to his son
what is the knights move?
two males affected by the same condition but they are related through an unnaffected female
what does knights move indicate?
x linked recessive (the female has an additional unnafcted X chromosome which protects her)
