Atypical chromosomes Flashcards

1
Q

How many people does Klinefelter’s (XXY) affect?

A

1/600

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2
Q

Name 3 physical characteristics of klinefelters.

A
  1. Breast development (gynaecomastia)
  2. Rounded body contours
  3. Underdeveloped genitals
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3
Q

Name 3 psychological characteristics of Klinefelters.

A
  1. Problems with executive functions like memory and problem-solving
  2. Poor language and reading ability
  3. Passive and shy
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4
Q

How many people does Turner’s (XO) affect?

A

1/5000

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5
Q

Name 3 physical characteristics of Turner’s.

A
  1. No menstrual cycle (amenorrhoea) so infertile
  2. Broad shield chest
  3. Webbed neck
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6
Q

Name 3 psychological characteristics of Turner’s.

A
  1. Higher than average reading ability
  2. Lack in spatial and visual memory and maths
  3. Socially immature
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7
Q

What is the issue with leaping to the conclusion that atypical differences in behaviour is purely due to differences at a biological level?

A

Relationship between atypical chromosomal patterns and behaviours seen in these individuals is not causal. Treatment of these individuals - like girls with Turner’s who may be treated immaturely by adults may lead to their ‘immaturity’.

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8
Q

Who studied the effects of early diagnosis and its benefits on individuals with klinefelter’s?

A

Herlihy et al.

Australian study on 87 men. Better management of symptoms compared to later adult diagnosis.

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9
Q

Who carried out a report on how prospective / longitudinal studies paint a more accurate picture of individuals with atypical chromosomes?

A

Boada et al.

Reported prospective studies on those with XXY chromosomes are more accurate as showed they did not experience significant problems and succeeded academically. Means typical assumption is exaggerated.

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10
Q

What is the benefits of individuals knowing they have either syndrome?

A
  • Helps them understand why they appear and act differently from other children of the same age
  • May be liberating and means the child is less likely to blame themselves
  • Earlier access to medical and psychological support
  • Children can receive information about the likely prognosis of their syndrome helping them and their parents plan for the future
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11
Q

What is the negatives of individuals knowing they have either syndrome?

A
  • Avoids a self-fulfilling prophecy – knowing you have the syndrome creates self-expectations of what their capabilities are
  • Early diagnosis may have a significant effect on a child’s self-concept
  • For instance, a child diagnosed with Klinefelter’s may expect to have difficulties with language comprehension reducing their motivation levels at school
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