Gender- Atypical sex chromosome patterns

Question 1

What chromosome structure do people that have Klinefelter’s syndrome posses?

Answer 1

XXY

Question 2

What biological sex are people with Klinefelter’s syndrome?

Answer 2

Male

Question 3

How common is Klinefelter’s syndrome?

Answer 3

1 in 750 males

Question 4

What percentage of cases of Klinefelter’s identified prenatally?

Answer 4

About 10%

Question 5

How does diagnosis of both turners and kinefelters come about?

Answer 5

Accidnetally via a medical examination forb an unrelated condition (usually for abnormal devolpment when puberty is emant to be happening)

Question 6

What chromosome structure do people that have turners syndrome posses?

Answer 6

X/X0

Question 7

How common is turners syndrome?

Answer 7

1 in 2000 females

Question 8

What biological sex are people with turners syndrome?

Answer 8

Female

Question 9

What is turners syndrome caused by?

Answer 9

-An absence of 1 of the 2 X chromosomes a female usually has
-Leads to 45 rather than 46 chromosomes

Question 10

How does chromosome variation occur in females with turners syndrome?

Answer 10

-Randomly when the baby is conceived

Question 11

What is meant by Atypical sex chromosome’s?

Answer 11

Any combinations of sex chromosomes other than XX (female) and XY (male)

Question 12

How do atypical sex chromosomes occur?

Answer 12

-Inherited
-conception
-division of the human reproductive cells before conception

Question 13

What are all the possible atypical sex chromosomes? Why do they all contain an X chromosome?

Answer 13

-XXY
-XYY
-X0
-Humans can only exist if they have an X chromosome

Question 14

What hormone do people with kinefelters syndrome have an excess of?

Answer 14

Oestrogen

Question 15

How does Klinefelter’s occur?

Answer 15

-due to an error in the egg cell when it develops and before it is fertilised
-if the father’s sperm carries an extra X chromosome

Question 16

Are both the conditions incurable?

Answer 16

Yes

Question 17

What is the treatment for Klinefelter’s syndrome?

Answer 17

Additional testosterone- increase muscle and bone development

Question 18

What can use of testosterone to treat Klinefelter’s not help?

Answer 18

Infertility

Question 19

What are the physical characteristics of Klinefelter’s?

Answer 19

Small testes + penis- produce low levels of testosterone
No facial hair+ limited pubic/body hair
Broarder hips + long legs/arms relative to torso + devolpement of breast tissue
Delayed/incomplete/no puberty
Infertility

Question 20

What are the psychological characteristics of kinefelters

Answer 20

Poor language skills that- reading and writing abilities
Poor mathematical skills
Quiet, shy temperament + attention difficulties
Increased risk of anxiety disorders and/or depression

Question 21

Turners: the 1.____ is neither male nor female because the second sex-determining chromosome is 2.___, however, babies with TS are born and develop as females because there is no Y chromosome to direct the foetal 3.___ to develop 4.__ characteristics

Answer 21

1.foetus
2.absent
3.Gonads
4.male

Question 22

Do both turners and Klinefelter’s have a mosaic form where only certain cells are affected?

Answer 22

Yes

Question 23

What is the treatment for turners syndrome?

Answer 23

Horomone replacement therapy- development of breasts and female curviture, undergoe bone growth and begin menstruation

Question 24

What are the physical characteristics of turners syndrome?

Answer 24

Delayed onset of puberty + underdeveloped ovaries -menstruation problems and infertility
Short in height, with a webbed neck, narrow hips and broad shoulders
heart and kidney abnormalities

Question 25

What are the psychological characteristics of turners syndrome?

Answer 25

Usually of average /above average cognitive ability
high level of verbal skill
Some social adjustment problems due to others’ responses to their appearance

Question 26

Give some research on kinefelters

Answer 26

DeLisi et al :
-conducted a clinical interview, cognitive tests and an MRI scan on KS and non-KS individuals
-found that 10 out of 11 of the KS participants had mental health and cognitive issues and also had smaller frontal lobes and temporal lobes
-suggests a biological basis for their language deficits and cognitive difficulties

Question 27

Give some research on turners

Answer 27

Quigley et al:
- investigated the positive effects of oestrogen replacement therapy as a form of treatment
- found that if treated before puberty, then females with TS would have a greater increase in breast tissue
-suggests early diagnosis+ treatment is vital

Question 28

Give a strength (Nature- nurture debate)

Answer 28

-Comparing chromosome- typical and atypical individuals highlights psychological and behavioural differences
-For example DeLisi’s research showed that participants with kinefelkters had a mental health condition or cognitive issues due to MRI scans showing smaller temporal and frontal lobes
-From these results we could infer that these differences have a biological basis due to having abnormal chromosome structure
-Adds to our understanding of the nature-nurture debate and suggests that influences have a powerful impact on psychology and behaviour
-However it is biologically reductionist
-, ignoring the complexities experienced by individuals growing up looking very different from their peers, and also in some cases, especially in KS, being at an intellectual and emotional disadvantage as well
-simplistic to suggest that differences in something as complicated as gendered behaviour are purely the result of chromosomes

Question 29

Give a limitation (Population validity)

Answer 29

-Research into KS and TS lacks population validity
-Such as DeLisi (KS- mental health and cognitive functioning) and Quigley et al (TS- treatment and its importance)
-those who are diagnosed with these syndromes will be those with the severest symptoms
-research will then be based on an unrepresentative sample as it excludes those who have milder symptoms, who are often those with the mosaic form
-so cannot make generalisations to the whole population (suffers of TS and Ks)

Question 30

Give a strength (Practical application)

Answer 30

-Quigley et al:-investigated the positive effects of oestrogen replacement therapy as a form of treatment
- found that if treated before puberty, then females with TS would have a greater increase in breast tissue
-suggests early diagnosis+ treatment is beneficial compared to those who are daignosed in adulthood
-people who are diagnosed in adulthood are more likely to have suffered from bullying due to being visibly different to their peeros which can be psychologically damaging
-further research will increase the liklihood of earlier diagnosis for all sufferes in the future
-will also lead to an increased understanding of the issues faced by those with these syndromes + the effects of atypical devolpment
-Although there are complicated ethical issues with treatment, such as the extraction and freezing of eggs from pre-pubescent girls so they may have a way to be pregnant later, that need careful consideration

Question 31

Give a limitation (individual differences)

Answer 31

-Research into both syndromes also ignores individual differences in the symptoms and progression of symptoms
-means that diagnosis and treatment may lack validity as it is based on generalised assumptions rather than on an individual basis