Atypical Sex Chromosone Patterns Flashcards

1
Q

What is meant by atypical sex chromosome patterns

A

-any sex chromosome pattern that deviates form the usual XX or XY , tends to associate with distinct pattern of physical/psychological symptoms

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2
Q

What is klinefelters syndrome (atypical sex chromosome pattens)

A

-affects about 1/600 males
-biological / anatomical males with extra X chromosome XXY
-10% identified by prenatal diagnosis , 2/3 ish unaware they have it
-diagnosis usually comes accidentally by medical examination for unrelated condition

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3
Q

What physical characteristics are there for klinefelters syndrome

A

-reduced body hair with extra X compared to XY male
-possible breast development (gynaecomastia) and ‘softening’ of body contours
-long gangly limbs
-underdeveloped genitals
-maybe issues with coordination , clumsiness
-susceptible to health issues that are more common in females like breast cancer

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4
Q

What psychological/behavioural characteristics are there for klinefelters

A

-poorly developed language skills , reading ability
-passive, shy, lack of interest in sexual activity
-tend not to respond well to stressful situations , and issues with ‘executive functions’ like memory and problem solving

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5
Q

What is Turner’s syndrome (atypical sex chromosome pattern)

A

-affects approx 1/5000 females
-absence of XX , referred to as XO
-45 chromosomes instead of 46

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6
Q

What physical characteristics are there for Turner’s syndrome

A

-no menstrual cycle (amenorrhoea)
-ovaries dont develop, so infertile
-no breasts at puberty
-broad ‘shield’ chest
-low set ears, ‘webbed’ neck
-high waist-to-hip ratio
-adults with turners are physically immature , tend to retain appearance of prepubescent girls

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7
Q

What psychological/behavioural characteristics are there for Turner’s syndrome

A

-in contrast to klinefelters, there’s a higher than average reading ability
-but performance on spatial, visual memory and mathematical tasks is lower than average
-also socially immature ,trouble relating to peers, difficulty ‘fitting in’

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8
Q

Whats a strength of research into atypical sex chromosome syndromes and its contribution to nature-nurture debate

A

Comparing ppl with these syndromes to those with chromosome-typical people, is possible to see psychological/behavioural differences between 2 groups (girls with turners , higher verbal ability, talk more than ‘typical’ girls)
Can logically infer that differences have a biological basis , and direct result of abnormal chromosomal structure
Support view that nature influences have powerful effect on psychology and behaviour

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9
Q

Whats the counterpoint to research into atypical sex chromosome syndromes and its contribution to nature/nurture debate

A

Relationship between atypical patterns associated with klinefelters and turners and differences in behaviours isn’t causal
Could be environmental/social influences that are more responsible for whats observed
Eg social immaturity seen in females with turners may arise as they are treated ‘immaturely’ by people
Parents/teachers may react to the prepubescent appearance that will encourage immaturity and may directly impact school performance
Shows it could be wrong to assume psychological / behavioural differences in those with syndrome are due to nature

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10
Q

Whats a further strength of research and its application to managing symptoms

A

Continued research into atypical sex chromosome patterns likely to lead to earlier/more accurate diagnoses of turners/klinefelters + more +ve outcomes for future
Australian study - 87 ppl with klinefelters showed those identified form young age/ treated experienced significant benefits in managing syndrome , compared to diagnosis in adulthood
Suggests that increased awareness of atypical chromosome patterns has use in real world

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11
Q

Whats a limitation of research and its sampling issue with the description of klinefelters

A

To identify XXY and XO individuals, necessary to identify large number of ppl with disorder , build a database
So we can see full range of characteristics from mild to severe
Generally, only those w severe symptoms identified
Picture of typical symptoms distorted
Boada et al report prospective studies have produced more accurate picture of traits
Many with klinefelters don’t have significant cog/psychological issues, highly successful academically/careers/personal lives
Suggests typical picture of klinefelters could be exaggerated

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12
Q
A
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