Atypical Sex Chromosome Patterns Flashcards
What is klinefelters syndrome?
- An additional X chromosome
- Sex chromosome structure is XXY
- Biological males with the anatomical appearance of a female
What are some stats related to Klinefelters syndrome?
Affects 1 in 600 males
- 10% of cases identified prenatally
- 2/3 of people are unaware they have it
What are the physical characteristics of Klinefelters syndrome?
- Reduced body hair compared to average male
- Some breast development during puberty (gynaecomastia)
- Some softening/rounding of body contours
- Tend to have long gangly limbs
- Underdeveloped genitals
- Problems with coordination and clumsiness
- Susceptible to health conditions associated with females
What are psychological characteristics of Klinefelters syndrome?
- Poorly developed language skills/reading ability
- Passive/shy
- Lack of interest in sexual activity
- Don’t respond well to stress
- Problems with executive functioning (eg: memory)
What is Turner’s syndrome?
Caused by an absence of 1 or 2 X chromosomes
- Referred to as XO
- Sufferers have 45 chromosomes rather than 46
What are some stats in relation to Turner’s syndrome?
Affects 1 in 5000 females
What are physical characteristics of Turner’s syndrome?
- No menstrual cycle (amenorrhoea)
- Ovaries fail to develop
- Sterile
- Develop a broad ‘shield’ chest rather than breast
- Low set ears and a webbed neck
- High waisted to hip ratio
- Physically immature
What are psychological characteristics?
- Higher than average reading ability
- Worse at spatial/visual memory/mathematical tasks
- Immature appearance
- Socially immature
- Trouble relating to peers
- Trouble fitting in
What are strengths of atypical chromosome patterns?
- Contributes to the nature-nurture debate
- Application to managing the conditions
- Knowing you have it may be helpful
How is ‘contribution to the nature-nurture debate’ a strength?
Through comparing people with a typical chromosomes, helps highlight differences
- logical that these differences have a biological basis
- Supports the idea that nature has a powerful effect on psychology and behaviour
How is ‘application to managing the conditions’ a strength?
Continued research could lead to earlier and more accurate diagnosis
- Can lead to more positive outcomes
- Herlihy et al: studied 87 people with Klinefelters
- Those identified and treated from a young age experience benefits in managing their condition
- increased awareness has useful real world applications
How is ‘knowing you have it may be helpful’ a strength?
- May help a child understand why they look/after differently
- Means the child doesn’t blame themselves
- Means they can have early access to medical and psychological support if needed
- may be a sampling issue with the description of Klinefelters syndrome
- most people who have it are unaware
What are limitations of Atypical chromosome patterns?
- Relationship between chromosomal abnormalities and differences in behaviour may not be causal
- May be a sampling issue with the description of Klinefelters syndrome
- Most people who have it may be unaware
How is “non causal relationships” a limitation?
- maybe the environment is responsible for the behaviours
- Social immaturity in those with Turner’s syndrome nah be due to being treated immature
- May impact on their performance in school
- Could be wrong to assume that psychological and behavioural differences are due to nature
How is “sampling issues” a limitation?
- In order to identify characteristics of XXY and XO individuals, it’s necessary to identify a large number of individuals with the condition and build a database
- To see a range of characteristics from mild to severe
- Only those with the most severe symptoms are identified
- Distorts the picture of typical symptoms are identified
- Boada et al: followed XXY individuals from birth
- Produced a more accurate picture of the characteristics
- Many with Klinefelters don’t experience significant cognitive/psychological problems
- Many highly successful academically in their personal lives and careers
- Suggests picture of Klinefelters and Turners is exaggerated