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ABGC2 > General (2) > Flashcards

General (2) Flashcards

1
Q

In what cases is X-inactivation non-random?

A

When there is a structurally abnormal X chromosome

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2
Q

Name 4 syndromes with absent speech

A
  • Angelman
  • Mowat-Wilson
  • Phelan-McDermid
  • Rett
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3
Q

Name 4 conditions in which germline mosaicism has been observed

A
  • DMD
  • Hemophilia A & B
  • OI
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4
Q

Does an anomaly usually occur before or after 8-10 fetal weeks?

A

before

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5
Q

Does a deformation usually occur before or after 8-10 fetal weeks?

A

after

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6
Q

What are the similarities and differences between deformations and disruptions?

A

Both are compressions or biochemical distortions of an already normally formed body part; a disruption, however, occurs to such an extreme degree that it looks like an anomaly

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7
Q

Is spina bifida an anomaly, deformation, or disruption?

A

anomaly

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8
Q

Is anopthalmia an anomaly, deformation, or disruption?

A

anomaly

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9
Q

Is postaxial polydactyly an anomaly, deformation, or disruption?

A

anomaly

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10
Q

Are club feet an anomaly, deformation, or disruption?

A

deformation

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11
Q

Are contractures an anomaly, deformation, or disruption?

A

deformation

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12
Q

Is a web neck an anomaly, deformation, or disruption?

A

disruption

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13
Q

What are 3 examples of normal variants?

A
  • 5th finger clinodactyly
  • 2-3 toe syndactyly
  • epicanthal folds
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14
Q

Is an association random or non-random?

A

non-random

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15
Q

Are bone dysplasias usually genetic or not?

A

usually genetic

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16
Q

Repression

A

feelings, perceptions, or memories are lost to consciousness

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17
Q

Denial

A

the reality of a situation or perception is not consciously experienced or recognized

18
Q

Intellectualization

A

the emotional responses to a situation are repressed and the situation is addressed through rational, cognitive processes

19
Q

Displacement

A

the expression of an emotion to the appropriate recipient is unacceptable or anxiety-producing, and the emotion is thus expressed to a more socially acceptable recipient. (ie anger at a partner for transmitting a dominant allele directed at the GC)

20
Q

Sublimation

A

wishes or drives that are deemed unacceptable are channeled into more socially acceptable activities (parent activity in a support group)

21
Q

Reaction formation

A

the individual utilizes the opposite action or emotion to ward off unacceptable emotions or wishes

22
Q

Projection

A

repressed or unacceptable emotions or wishes are perceived as residing in others

23
Q

Projective identification

A

the individual’s behavior induces a repressed or unacceptable emotion in another person (anger from a parent to a GC makes the GC angry)

24
Q

name 3 mimics of denial

A
  • disbelief
  • deferral
  • dismissal
25
Q

Disbelief

A

information provided is heard but not accepted because it does not appear to make sense (the child appears normal now, so cannot have a disease)

26
Q

Deferral

A

information is accepted but implications are not, which helps counselee prevent the impact of the information from exceeding their psychological resources

27
Q

Dismissal

A

involves devaluing or attacking the legitimacy of the processional or profession from which bad news is received

28
Q

Transference vs. countertransference

A

Transference is when one brings old patterns of expectation to new situation in attempts to create familiar structure for the event. Countertransference is a reaction or response to that (reaction, defenses, emotions from the GC)

29
Q

What should be the first culprit to consider when multiple pregnancy losses have occurred?

A

a chromosome rearrangement

30
Q

What is the baseline risk for birth defects / mental retardation?

A

3%

31
Q

What is the most central aspect of patient centered counseling?

A

empathy

32
Q

Confronting

A

a coping style characterized by trying to change the opinion of the person in charge

33
Q

Distancing

A

a coping style characterized by going on as if nothing happened

34
Q

Self-controlling

A

a coping style characterized by keeping feelings to oneself

35
Q

Seeking social support

A

a coping style characterized by engaging in conversation in the hope of learning more

36
Q

Accepting responsibility

A

a coping style characterized by criticizing oneself

37
Q

Escape-avoidance

A

a coping style characterized by hoping for a miracle

38
Q

Planning

A

a coping style characterized by identifying and following an action plan

39
Q

Positive reappraisal

A

a coping style characterized by identifying existing or potential positive outcomes

40
Q

the Health Belief Model

A

Based on the idea that the degree of fear or threat of a disease or condition is a powerful motivating force of behavior; perceived susceptibility/severity, perceived barriers, cues to action, self-efficacy

41
Q

the Stages of Change Model

A

precontemplation, contemplation, decision, action, maintenance

42
Q

What is the main concept in the Theory of Reasoned Action?

A

behavioral intention

ABGC2 (12 decks)

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