Gender: Atypical sex chromosome patterns

Question 1

Who does Klinefelter’s syndrome affect?

Answer 1

Males

Question 2

Who does Turner’s syndrome affect?

Answer 2

Females

Question 3

Describe Klinefelter’s syndrome.

Answer 3

-genotype: XXY
-additional X chromosome, causes development of facial/physical characteristics similar to a female (a soft face with no prominent jawline and
gynecomastia (development of breasts, and therefore the associated risks of breast cancer).
-Generally clumsy (perhaps
due to their long limbs) and achieve poorer than average scores on tests assessing visuo-spatial and reading skills.
-The psychological and cognitive symptoms are generally negative.

Question 4

Describe Turner’s syndrome.

Answer 4

-Absence of 2 copies of the X chromosome, therefore only 45 chromosomes and a genotype of X0.
-Develop facial/physical characteristics of a male (broad shoulders and neck, a lack of menstrual cycles or ovaries (resulting in sufferers being infertile, but still able to reproduce through IVF) and
having the appearance of being ‘young’ and developmentally immature.
-Display advanced reading skills, but struggle with social communication and visuo-spatial tasks. Therefore, the psychological and cognitive symptoms can be positive

Question 5

A03- strength, contribution to the nature nurture debate

Answer 5

Studying those with these syndromes/comparing
them to those who have typical sex chromosomes can aid our understanding of what types of behaviours are innate e.g. verbal ability. This gives us a better understanding of the
relative contributions of nature-nurture to human behaviour. However, many of those with atypical patterns are not diagnosed and so only the symptoms of the most severe cases are
recorded.
Boada found many Klinefelter’s sufferers do not have significant problems
and are highly successful in life. This suggests this research may not be as useful in understanding
the nature-nurture debate as previously thought.

Question 6

A03- strength, real-world application

Answer 6

Research into these syndromes has helped to identify cases much earlier, so an earlier diagnosis can improve the management of symptoms. Those who are treated early tend to gain
significant benefit in managing their symptoms Therefore, this suggests that
research into atypical sex chromosome patterns has good application and implications for the real world.

Question 7

A03- limitation, not beneficial to everyone

Answer 7

Around 2/3 of those with Klinefelter’s Syndrome are unaware they have it and if they did then they may act out a self fulfilling prophecy. This is where we begin to act out our ‘label’ and put
limits on our perceived abilities. Therefore, some would argue that having a diagnosis may be helpful to some but not to others.