Pedigree Stuff Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

This disorder only occurs in individuals who have 2 copies of a mutation…

A

autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What is it called when someone has 2 different mutations (but in the same gene)?

A

COMPOUND Heterozygous…can be a part of autosomal recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

In autosomal recessive, Heterozygotes (carriers) are not _______.

A

Clinically Affected

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What type of inheritance? Sickle cell anemia

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What type of inheritance? Cystic Fibrosis

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What type of inheritance? Amelogenesis Imperfecta

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

This factor suggests which type of inheritance: Single generation affected (horizontal transmission)

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

This factor suggests which type of inheritance: Both males and females affected

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

This factor suggests which type of inheritance: Consanguinity (parents are related even
if several generations back)

A

CONSANGUINITY: AUTOSOMAL RECESSIVE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

This factor suggests which type of inheritance: Parents from isolated area or genetic isolates

A

Autosomal Recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

This factor suggests which type of inheritance: Only one mutation is required for disorder to be present

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

This factor suggests which type of inheritance: most individuals only have 1 mutant allele

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

This factor suggests which type of inheritance: Some _______ disorders have high mutation rates

A

autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What type of disorder? Achondroplasia

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What type of disorder? Neurofibromatosis

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What type of disorder? Amelogenesis Imperfecta

A

Autosomal Dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What type of disorder? Hereditary Gingival Fibromatosis

A

Autosomal Dominant

18
Q

This factor suggests which type of inheritance: vertical transmission

A

Autosomal Dominant

19
Q

This factor suggests which type of inheritance: Multiple generations affected (vertical transmission)

A

Autosomal Dominant

20
Q

This factor suggests which type of inheritance: Both males and females affected

A

autosomal dominant

21
Q

This factor suggests which type of inheritance: Male to male transmission

A

autosomal dominant (NO WAY X-LINKED)

22
Q

This factor suggests which type of inheritance: New mutations are common for some disorders!

A

autosomal dominant

23
Q

What does this describe? The heterozygous phenotype is intermediate compared to the two homozygous states

A

incomplete dominance

24
Q

What type of inheritance is PENETRANCE related to?

A

Autosomal Dominant

25
Q

What does this describe? Given that someone has inherited the mutant allele, what is the chance that they will express the phenotype

A

Penetrance

26
Q

What does this describe? ALSO what type of inheritance are we talkin bout?…Given that a person who has inherited a mutant allele expresses the trait, how severely affected are they?

A

Variable Expressivity…Autosomal Dominant

27
Q

What two groups are homozygous?

A

males and turner syndrome females

28
Q

What is this describing? In somatic cells of females, only 1 X chromosome transcriptionally active..

A

Lyonization

29
Q

Which gender will display the Barr Body?

A

Females

30
Q

This factor suggests which type of inheritance: Incidence of trait much higher in males than females.

A

X-linked Recessive

31
Q

This factor suggests which type of inheritance: Heterozygous females are usually unaffected.

A

X-linked Recessive

32
Q

What type of disorder? Hemophilia A

A

X-linked Recessive

33
Q

What type of disorder? Duchenne muscular dystrophy

A

X-linked Recessive

34
Q

This factor suggests which type of inheritance: Usually transmitted by carrier females

A

X-linked recessive

35
Q

This factor suggests which type of inheritance: Affected males with normal partners have no affected sons and no normal daughters

A

X-linked Dominant

36
Q

This factor suggests which type of inheritance: Male and female offspring of female carriers have 50% risk of being affected

A

X-linked Dominant

37
Q

This factor suggests which type of inheritance: For rare phenotypes, affected females are twice as common as affected males, but may have milder phenotype

A

X-linked Dominant

38
Q

This factor suggests which type of inheritance: May see male lethality

A

X-linked Dominant

39
Q

What type of disorder? Hypophosphatemic rickets

A

X-linked Dominant

40
Q

What type of disorder? Incontinentia pigmenti

A

X-linked Dominant