atypical sex chromosome patterns

Question 1

turners syndrome chromosome pattern

Answer 1

only one x chromosome on 23rd pair (XO)

Question 2

how many people does turners syndrome affect

Answer 2

1 in 2000 females

Question 3

when is turners syndrome is typically diagnosed

Answer 3

when girls fail to show sexual development : 8-14 years

Question 4

physical characteristics of turners syndrome

Answer 4

• shorter than avergae (4ft7)
• lack of menstrual cycle - ovaries fail to develop
• no breast development, broad chest
• webbed neck, low set ears
• appearance of pre-pubescent girl

Question 5

psychological characteristics of turners syndrome

Answer 5

• higher than average verbal ability
• lower than average spatial ability - visual memory and mathematical skills
• socially immature, poor relationship with peers

Question 6

two treatments of turners syndrome and their functions

Answer 6

• growth hormone injections - increases height
• oestrogen replacement therapy - breast development, begin a monthly menstruation period

Question 7

klinefelters syndrome chromosome pattern

Answer 7

additional X chromosome on 23rd pair (XXY)

Question 8

how many people does klinefelters syndrome affect

Answer 8

1 in 750 males

Question 9

physical characteristics of klinefelters syndrome

Answer 9

• taller than expected for the family
• underdeveloped genitals - small penis and testicles
• long arms and legs
• slow muscle growth
• reduced facial and body hair
• enlarged breasts

Question 10

psychological characteristics

Answer 10

• poorly developed language skills and reading ability
• poor memory and problem solving
• mild dyslexia
• passive, shy, lack of confidence
• lack interest in sexual activity
• dont respond well to stressful situations

Question 11

evaluation - genes influence on intelligence

Answer 11

the language ability has been affected by a chromosomal abnormality suggests our biology plays a role. genes can have a direct influence on intelligence

Question 12

weakness of atypical chromosomes (turners)

Answer 12

cause and effect - characteristics of atypical chromosomes can have indirect consequences
eg. poor relationships with peers could be caused by their pre-pubescent appearance, their peers treat them as though they are younger.

Question 13

weakness of atypical chromosomes (klinefelters)

Answer 13

one third of klinefelters patients are aware of their conditions
those aware of their condition have more severe symptoms. those unaware are likely to have milder symptoms
therefore, the patients being studied are not typical of the condition

Question 14

practical applications

Answer 14

greater awareness results in earlier diagnosis, results in better long term outcomes. earlier intervention has significant benefits for patients