Family Health History

Question 1

What is a pedigree

Answer 1

Family Tree

Question 2

Where is the relationship line

Answer 2

Between the parents

Question 3

Where is the sibship line

Answer 3

Above the siblings

Question 4

Where is the line of descent

Answer 4

Vertical from the relationship line to middle of sibship line

Question 5

What is the individual’s line

Answer 5

vertical from the sibship line to the specific sibling

Question 6

What delineates the patient

Answer 6

Free arrow pointing towards patient

Question 7

What is the order of drawing a pedigree

Answer 7

1. Patient
2. partner and children
3. patient siblings
4. patient sibling partner and children
5. patient parents
6. patient aunt and uncles and cousins
7. patients grandparents
8. patient partner family (optional)

Question 8

How many generations are the gold standard in a pedigree

Answer 8

3

Question 9

What is the necessary documentation on a pedigree

Answer 9

1. name of person taking pedigree
2. name of historian
3. date and location

Question 10

Square is

Answer 10

male

Question 11

Circle is

Answer 11

female

Question 12

Triangle is

Answer 12

miscarriage

Question 13

Triangle with slash is

Answer 13

Termination of pregnancy

Question 14

diamond is

Answer 14

children unknown gender

Question 15

Diamond with “n” is

Answer 15

unknown amount of children

Question 16

Diamond with P is

Answer 16

pregnant with unknown gender

Question 17

“D” represents

Answer 17

donor

Question 18

Shading means

Answer 18

affected with disorder a

Question 19

what is included under shaded person

Answer 19

age, disorder, and

diagnosed age

Question 20

What side do you attempt to include multiple fathers with same mother

Answer 20

Left

Question 21

How is consanguinity delineated

Answer 21

double horizontal line with relationship beneath

Question 22

Chosen lack of children is what

Answer 22

one horizontal line under line of descent with reason i.e. “Vasectomy”

Question 23

Infertility is delineated by

Answer 23

two horizontal lines under line of descent with reason i.e. “endometriosis”

Question 24

Twins are delineated by

Answer 24

two lines from same individual’s line. connected if identical

Question 25

dotted line of descent means

Answer 25

adoption into family

Question 26

solid line of descent with child in brackets means

Answer 26

adoption out of family

Question 27

“S” means

Answer 27

A surrogate was used with using her gametes

Question 28

Aspects of Autosomal dominant

Answer 28

every generation is affected, about 50% affected, males and females

Question 29

What is incomplete dominance

Answer 29

disorder more severe in homozygotes

Question 30

What is pure dominance

Answer 30

Homozygous and heterozygotes are affected equally - no known disorders at this time

Question 31

what is co-dominance

Answer 31

Phenotypic expression of 2 different alleles occur

Question 32

What is penetrance

Answer 32

all or none will be effected

Question 33

Reduced pentrance can look like what phenomenon

Answer 33

Skipping generations i.e. ectrodactyly

Question 34

How can the same condition present multiple ways

Answer 34

variable expressivity

Question 35

what is expressivity

Answer 35

the severity of the phenotype among people with the same genotype

Question 36

What is de novo

Answer 36

new mutations

Question 37

What is germline mosaicism

Answer 37

only the germ cells have the mutation and it cannot be tested for

Question 38

Characteristics of autosomal recessive

Answer 38

if >1 person affected, males and females, parents asymptomatic, possible consanguinity, 25% recurrance

Question 39

How to distinguish auto recessive v X-linked

Answer 39

X-linked only affects males, lack of male to male transmission