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CTGN Finals > Pedigree Concepts > Flashcards

Pedigree Concepts Flashcards

1
Q

“Genetic counseling” was coined by

A

Sheldon Reed

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2
Q

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

A

masters degree

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3
Q

4 reasons for patient to see genetic counselor

A

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

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4
Q

2 genetic testing techniques

A

karyotype and amniocentesis

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5
Q

Genetic analysis method to determine disease
family history

A

Genetic testing technique

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6
Q

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

A

Pedigree analysis

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7
Q

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

A

pedigree chart

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8
Q

Squares represent ___ and Circles represent ____

A

square: males ; circles:females

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9
Q

Shaded squares or circles signify the presence of ___

A

trait of interest

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10
Q

Rows are ____, labeled with ____.

A

generations, roman numerals

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11
Q

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.

A

false, left to right

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12
Q

horizontal line connecting two parents is called a

A

marriage line

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13
Q

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

A

sibling line

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14
Q

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

A

off spring

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15
Q

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

A

Autosomal dominant

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16
Q

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

A

Autosomal dominant

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17
Q

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

A

Autosomal Recessive

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18
Q

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

A

X-linked dominant

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19
Q

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

A

X-linked Recessive

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20
Q

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

A

Mitochondrial

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21
Q

Inheritance Pattern: Beta thalassemia; Cystic fibrosis; Homocystinuria

A

Autosomal Recessive

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22
Q

Inheritance Pattern: Rett syndrome; Hypophosphatemia

A

X-linked dominant

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23
Q

Inheritance Pattern: Hemophilia; Duchenne Muscular Dystrophy

A

X-linked Recessive

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24
Q

Inheritance Pattern: LHON: Leber’s hereditary optic neuropathy

A

Mitochondrial

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25
Q

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

A

c. cosanguinity

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26
Q

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

A

a. every child of affected mother is affected

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27
Q

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

A

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

28
Q

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

A

e. approximately half of everybody

29
Q

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

A

a. all males all the time, all generations

30
Q

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

A

TRUE

31
Q

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

A

autosomal recessive trait

32
Q

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

A

autosomal recesivve

33
Q

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

A

autosomal recessive trait

34
Q

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

A

autosomal recessive trait

35
Q

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

A

recessive

36
Q

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

A

Phenylketonuria (PKU)

37
Q

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

A

autosomal dominant trait

38
Q

Freckles and polydactylism (extra fingers or toes) are examples

A

autosomal dominant trait

39
Q

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

A

autosomal dominant trait

40
Q

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

A

autosomal dominant trait

41
Q

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

A

autosomal dominant trait

42
Q

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

A

Huntington’s disease

43
Q

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

A

Huntington’s disease

44
Q

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.

A

Huntington’s disease

45
Q

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.

A

Huntington’s disease

46
Q
  • Trait is rare in pedigree.
    • Trait skips generations.
    • Affected fathers DO NOT pass to their sons.
    • Males are more often affected than females
A

X linked recessive

47
Q

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

A

false, 50%

48
Q

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

A

TRUE

49
Q

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

A

TRUE

50
Q

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

A

X linked recessive

51
Q

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

A

TRUE

52
Q

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

A

TRUE

53
Q

incontinentia pigmenti (skin lesions)

A

x linked dominant

54
Q

X-linked rickets (bones soften/deform)

A

x linked dominant

55
Q

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

A

TRUE

56
Q

Y-linked inheritance is also called ____

A

holandric inheritance

57
Q

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

A

false, female

58
Q

presentation timing of mitochondrial

A

usually after puberty

59
Q

in mitochondrial, there is variable expression due to ___

A

heteroplasmy

60
Q

genders affected in mitochondrial

A

equal male and female

61
Q

t/f: mitochondrial skips generations

A

FALSE

62
Q

genders affected in X linked dominant

A

equal male and female

63
Q

Generations affected: X linked dominant

A

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

64
Q

presentation timing of X linked dominant

A

usually after puberty

65
Q

Genders affected: X linked recessive

A

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

CTGN Finals (6 decks)

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