4. atypical sex chromosome patterns Flashcards
what is klinefelters syndrome?
affects how many? think chromosome structure
Is an example of an atypical sex chromosome pattern. It affects 1 in 600 males.
Individuals who have this condition are biological males with an anatomical appearance of males - and have an additional X chromosome, giving a sex chromosome structure of XXY.
2/3rds of people who have this syndrome are unaware of it as diagnosis comes about accidentally via a medical examination for an unrelated condition
PHYSICAL CHARACTERISTICS of klinefelters syndrome
4
Reduced body hair compared to XY males, underdeveloped genitalia.
Breast development during puberty (gynaecomastia)
Softening and rounding of the body, long gangly limbs.
Problems with coordination, clumsiness, more susceptible to breast cancer.
PSYCHOLOGICAL CHARACTERISTICS of klinefelters syndrome?
3
Poorly developed reading and language ability,
Passive, shy and lack interest in sexual activity.
Exhibit problems with executive functions such as memory and problem solving.
what is Turner’s syndrome?
affects how many? think chromosome structure
1 in 5000 biological females suffer from an absence of one X chromosome - giving them the structure XO as they have 45 chromosomes instead of 46.
PHYSICAL CHARACTERISTICS of turners syndrome?
3
No menstrual cycle as the ovaries do not develop infertile.
Do not develop breasts at puberty, have a webbed neck and low set ears.
Hips not bigger than the waist physically immature and retain the appearance of prepubescent girls.
PSYCHOLOGICAL CHARACTERISTICS of turners syndrome?
3
Higher than average reading ability.
Lower than average spatial, visual memory and mathematical ability.
Socially immature, difficulty relating to their peers and ‘fitting in’.
AO3: give one strength of atypical sex chromosome patterns
useful for the NATURE NURTURE DEBATE
One strength of research into atypical sex chromosome syndromes is its contribution to the nature-nurture debate.
By comparing people who have these syndromes with chromosome typical individuals it becomes possible to see psychological and behavioural differences between the two groups. It might be logically inferred that these differences have a biological basis and are a direct result of the abnormal chromosome structure.
This would support the view that innate ‘nature’ influences have a powerful effect on psychology and behaviour.
AO3: give one strength of atypical sex chromosome patterns
REAL WORLD APPLICATION - Klinefeters study (australian)
Another strength of the research is the application to managing the symptoms.
Continued research into atypical sex chromosome patterns is likely to lead to earlier and more accurate diagnoses of Turner and Klinefelter’s syndromes as well as more positive outcomes in the future. An Australian study of 87 individuals with Klinefelter’s syndrome showed that those who had been identified and treated from a young age experienced significant benefits in terms of managing their syndrome compared to those who diagnosed in adulthood.
This suggests that the increased awareness of atypical chromosome patterns does have a useful real-life application and can help people with these syndromes live a higher quality of life.
AO3: give one limitation of atypical sex chromosome patterns
differences not causal - may be environmental (use turners as example)
The relationship between the atypical chromosomal patterns associated with Klinefelter’s and Turner’s syndrome and the differences in behaviour seen in these individuals are not causal.
It may be that environmental and social influences are more responsible for the behavioural differences observed. For example, social immaturity seen in females with Turner’s syndrome may arise from the fact that they are treated ‘immaturely’ by people around them. Parents, teachers, and others may react to the prepubescent appearance of a girl with Turner’s syndrome in a way that encourages immature behaviour, and this may have a direct impact upon their performance at school leading to the specific learning problems identified.
This shows that it could be wrong to assume that psychological and behavioural differences in people with atypical sex chromosome patterns are due to nature.
