atypical sex chromosomes Flashcards
what is kleinfelters syndrome?
Due to an XXY configuration and it affects men.
An individual is born with a penis and develops as a normal male.
how many individuals does kleinfelters syndrome affect?
It affects approximately 1/500-1/1000 males.
how likely are you to find out if you have kleinefelters syndrome?
10% of cases are identified prenatally whereas 2/3 of suffers tend to never find out.
what are some physical effects of kleinefelters syndrome?
- Reduced body hair
- Some breast development
- Rounding of body contours
- Underdeveloped genitals
- Problems with coordination
- General clumsiness
- Often infertile
Many of these effects are due to lower levels of testosterone.
what are some psychological characteristics of kleinefelters syndrome?
- Associated with poorly developed language and reading skills
- Tendency to be passive and shy
- Reduced sex drive
Whilst most feel male, others identify a neither gender, both genders or female. Gender fluid is an expression which is often used.
what is turners syndrome?
It is caused by an absence of one or two chromosomes, XO.
They have 45 chromosomes instead of 46 and it effects 1/5000 biological females.
what are some physical characteristics of turners syndrome?
- No menstrual cycle
- Ovaries fail to develop, they are sterile
- No breast development at puberty, instead have a broard ‘shield’ chest
- Low set ears
- Webbed neck
- High waist-to-hip ratio (both similar widths)
- Physically immature, pre-pubescent
what are some psychological characteristics of turners syndrome?
- Higher than average reading ability
- Lower than normal performance on visuo-spatial memory and mathematical tasks
- Socially immature, have trouble relating to peers and ‘fitting in’
AO3: how is ‘the role of nature’ a strength to atypical sex chromosome patterns?
one strength to atypical sex chromosome patterns is that they support the role of nature. This is because studying people with atypical sex chromosomes can contribute to our understanding of the nature-nurture debate. By comparing to chromosome typical individuals, it can help us understand what the genes and hormones do, as a result of observing the physical and psychological differences between the two groups. For example, individuals with Klinefelter’s syndrome tend to be more passive and shy. Therefore, this suggests there is a genetic or hormonal influence on our physical and psychological characteristics.
AO3: how is ‘the role of nurture’ a limitation to atypical sex chromosome patterns?
one limitation to atypical sex chromosome patterns is that we cant rule out the role of nurture. This is because we cant completely rule out the role of nurture in determining sex-appropriate behaviours. This is because behaviour differences observed in those with Klinefelter’s syndrome and Turner’s syndrome may be due to how they have been treated. For example, parents and teachers may react to the pre-pubescent appearance of someone with Turner’s syndrome and treat them in a way that encourages the social immaturity observed. Therefore, without looking at the individuals environment and how others treat them, we cant ignore the role of nurture in the development of physical and psychological characteristics in individuals with atypical sex chromosomes.
AO3: how is ‘real life application’ a strength to atypical sex chromosome patterns?
one strength to atypical sex chromosome patterns is that there is real life application. This is because if we understand the characteristics of someone with atypical sex chromosomes, it can lead to earlier and more accurate diagnosis of conditions such as Klinefelter’s syndrome and Turners syndrome and lead to more positive outcomes for those involved. For example, Herlihy et al. (2011) conduced an Australian study where they found that those identified as having Klinefelter’s syndrome at a younger age had significant benefits compared to those diagnosed in adulthood, this also allows individuals to receive possible hormone treatments and therapy earlier on in life. Therefore, by understanding what to look for in individuals with atypical sex chromosome patterns, it allows us to help them earlier on to give them help to live as normally to chromosome typical individuals.
AO3: how is ‘it lacks generalisability’ a limitation to atypical sex chromosome patterns?
one limitation to atypical sex chromosome patterns is that the findings lack generalisability. This means that caution should be exercised when drawing conclusions from research carried out on an unusual and unrepresentative sample. For example, whether we can generalise the findings to the wider population is questionable, and in this case, these individuals may have had other things to contend with in addition to their atypical chromosome pattern. Therefore, we should think twice before generalising the conclusions of research to the wider population when it was carried out on unrepresentitive samples.
