Pedigree Concepts

Question 1

“Genetic counseling” was coined by

Answer 1

Sheldon Reed

Question 2

In 1971, the first batch of trained genetic counselors were trained; nowadays, should have a ____

Answer 2

masters degree

Question 3

4 reasons for patient to see genetic counselor

Answer 3

family history of Cancer, multifactorial disease, abnormal chromosomes, single gene disease

Question 4

2 genetic testing techniques

Answer 4

karyotype and amniocentesis

Question 5

Genetic analysis method to determine disease
family history

Answer 5

Genetic testing technique

Question 6

Genetic counselor deduce dominance and distinguish autosomal from X-linked inheritance

Answer 6

Pedigree analysis

Question 7

family tree,” drawn with standard genetic symbols, showing inheritance patterns for specific phenotypic characters

Answer 7

pedigree chart

Question 8

Squares represent ___ and Circles represent ____

Answer 8

square: males ; circles:females

Question 9

Shaded squares or circles signify the presence of ___

Answer 9

trait of interest

Question 10

Rows are ____, labeled with ____.

Answer 10

generations, roman numerals

Question 11

t/f: Within each generation, or row, family members may be labeled numerically from right to left and referred to by their generation and position.

Answer 11

false, left to right

Question 12

horizontal line connecting two parents is called a

Answer 12

marriage line

Question 13

A vertical line of descent extending downward from a marriage line connects to a horizontal ____

Answer 13

sibling line

Question 14

Individuals connected to the line of descent via the sibling line are ___.

Answer 14

off spring

Question 15

One mutated allele causes the disease Each affected person usually has one affected parent Appears in every generation of an affected family (Vertical)

Answer 15

Autosomal dominant

Question 16

Inheritance Pattern: Marfan syndrome; Achondroplasia; Huntington disease; Myotonic dystrophy

Answer 16

Autosomal dominant

Question 17

inheritance pattern: Two mutated alleles needed to cause the disease Parents are usually unaffected heterozygotes Not typically seen in every generation (Horizontal).

Answer 17

Autosomal Recessive

Question 18

Inheritance pattern: Females are more frequently affected than males no male-to-male transmission

Answer 18

X-linked dominant

Question 19

Inheritance pattern: Males are more frequently affected than females Both parents of an affected daughter must be carriers Fathers cannot pass X-linked traits to their sons

Answer 19

X-linked Recessive

Question 20

Inheritance pattern: Only females can pass on mitochondrial conditions to their children (maternal inheritance) Both males and females can be affected Can appear in every generation of a family

Answer 20

Mitochondrial

Question 21

Inheritance Pattern: Beta thalassemia; Cystic fibrosis; Homocystinuria

Answer 21

Autosomal Recessive

Question 22

Inheritance Pattern: Rett syndrome; Hypophosphatemia

Answer 22

X-linked dominant

Question 23

Inheritance Pattern: Hemophilia; Duchenne Muscular Dystrophy

Answer 23

X-linked Recessive

Question 24

Inheritance Pattern: LHON: Leber’s hereditary optic neuropathy

Answer 24

Mitochondrial

Question 25

All except one pertains to Autosomal Dominant a. approximately half of everybody b. males and females affected c. consanguinuity d. all generations

Answer 25

c. cosanguinity

Question 26

All except one pertains to Autosomal Recessive a. every child of affected mother is affected b. Rare c. Skips generations d. Males and females affected e. Consanguinity

Answer 26

a. every child of affected mother is affected

Question 27

All except one pertains to X linked dominant (sex-linked dominant) a. some females can have it b. all generation (no skipped generations) c. males generally get it from unaffected mothers and give it to their daughters

Answer 27

c. males generally get it from unaffected mothers and give it to their daughters

Question 28

all except but one pertains to X linked recessive (sex-linked recessive) a. rare b. males predominantly have it c. generally skips generations d. males generally get it from unaffected mothers e. approximately half of everybody

Answer 28

e. approximately half of everybody

Question 29

all except but one does not pertain to Y linked a. all males all the time, all generations (mus tbe direct descedent of the family) b. some females can have it

Answer 29

a. all males all the time, all generations

Question 30

t/f: every child of affected mother is affected in mitochondrial or maternal

Answer 30

TRUE

Question 31

Traits caused by genes on autosomes and requiring two allele copies to influence a phenotype are _______

Answer 31

autosomal recessive trait

Question 32

Several disorders are _____, including cystic fibrosis, Tay-Sachs disease, and maple syrup urine disease.

Answer 32

autosomal recesivve

Question 33

Most people with these diseases have heterozygous parents who do not have the condition but carry a causal allele.

Answer 33

autosomal recessive trait

Question 34

These carriers can unknowingly impart the disease to their children, which partially explains why _______ are more common than their dominant counterparts.

Answer 34

autosomal recessive trait

Question 35

Neither parent has the trait, but one child inherits it. Thus, it must be ____

Answer 35

recessive

Question 36

A human metabolic disease caused by a mutation in a gene encoding a phenylalanine- processing enzyme, which leads to mental retardation if not treated; inherited as an autosomal recessive phenotype

Answer 36

Phenylketonuria (PKU)

Question 37

These are requiring only one copy of the determining allele to influence phenotype

Answer 37

autosomal dominant trait

Question 38

Freckles and polydactylism (extra fingers or toes) are examples

Answer 38

autosomal dominant trait

Question 39

_____ diseases, such as Huntington’s disease, afflict ~50% of offspring with one affected parent.

Answer 39

autosomal dominant trait

Question 40

Many of these diseases do not cause symptoms until later in life and or after reproductive age.

Answer 40

autosomal dominant trait

Question 41

Children can inherit these diseases from unknowingly affected parents, highlighting the importance of analyzing family history.

Answer 41

autosomal dominant trait

Question 42

an autosomal dominant genetic disorder that affects the central nervous system of human beings.

Answer 42

Huntington's disease

Question 43

This disease typically shows up when a person reaches their mid 30's or 40's, with no earlier signs or symptoms.

Answer 43

Huntington's disease

Question 44

The nerve cells of an affected individual quickly degenerate in certain parts of the brain, which leads to symptoms that include dementia, loss of memory, and severely decreased mental capacity, muscle rigidity, and loss of bodily function and muscle coordination.

Answer 44

Huntington's disease

Question 45

usually shortens an affected persons lifespan, with the average person dying 15-20 years after onset of the disease, making the life expectancy around 50-60 years of age.

Answer 45

Huntington's disease

Question 46

* Trait is rare in pedigree. • Trait skips generations. • Affected fathers DO NOT pass to their sons. • Males are more often affected than females

Answer 46

X linked recessive

Question 47

t/f: in X-linked recessive, carrier mother's son have 0% of having disease

Answer 47

false, 50%

Question 48

t/f: in X-linked recessive, male to male transmission is not allowed

Answer 48

TRUE

Question 49

t/f: in X-linked recessive, only one defective copu is necessary for disease in males

Answer 49

TRUE

Question 50

What inheritance pattern Red-green color blindness Hemophilia • X-linked ichthyosis

Answer 50

X linked recessive

Question 51

t/f: in X-linked dominant, male to male transmission is not seen

Answer 51

TRUE

Question 52

t/f: x linked are unusual and lethal in males

Answer 52

TRUE

Question 53

incontinentia pigmenti (skin lesions)

Answer 53

x linked dominant

Question 54

X-linked rickets (bones soften/deform)

Answer 54

x linked dominant

Question 55

t/f: Y-linked genes can only be transmitted from father to son

Answer 55

TRUE

Question 56

Y-linked inheritance is also called ____

Answer 56

holandric inheritance

Question 57

t/f: in mitochondrial, only transmitted from affected male and gives to all offspring

Answer 57

false, female

Question 58

presentation timing of mitochondrial

Answer 58

usually after puberty

Question 59

in mitochondrial, there is variable expression due to ___

Answer 59

heteroplasmy

Question 60

genders affected in mitochondrial

Answer 60

equal male and female

Question 61

t/f: mitochondrial skips generations

Answer 61

FALSE

Question 62

genders affected in X linked dominant

Answer 62

equal male and female

Question 63

Generations affected: X linked dominant

Answer 63

does not skip generations females of affected fathers are always affected male or females of affected mothers can be affected

Question 64

presentation timing of X linked dominant

Answer 64

usually after puberty

Question 65

Genders affected: X linked recessive

Answer 65

males must receive defective gene from carrier mother affected males give copy to all of their daughters