Atypical sex chromosome patterns

Question 1

Klinefelter’s syndrome

Answer 1

• Males only
• Extra chromosome - XXY instead of XY
• Usually not diagnosed until puberty as boys testicles fail to grow normally
• Most common symptom is infertility
• Physical characteristics: Reduced body hair, some breast development, long gangly limbs, rounded body contours, clumsiness
• Psychological characteristics: Poor language and problem solving, shyness, lack of interest in sex
• Treatment: Testosterone therapy, speech therapy and educational support (if they have language or learning problems)

Question 2

Turner’s syndrome

Answer 2

• Females only
• One less chromosome - XO instead of XX
• Physical characteristics: Infertility, webbed neck, shield chest, narrow hips, shorter than average
• Psychological characteristics: high reading ability, reduced spatial memory, social immaturity
• Treatment: No cure, Regular health check of their heart, kidneys and reproductive system, life expectancy is slightly reduced

Question 3

Atypical chromosome patterns - evaluation - strength

Answer 3

• Real world application
• Continued research is likely to lead to earlier and more accurate diagnosis as well as more positive outcomes in the future
• Research has found that those who had been diagnosed and treated earlier in life from a young age experienced significant benefits in terms of managing their syndrome compared to those who had been diagnosed in adulthood

Question 4

Atypical chromosome patterns - evaluation - limitation

Answer 4

• Sampling issue with Klinefelter’s syndrome
• Only most severe symptoms have been identified and used so picture of typical symptoms may be distorted
• More recent research has shown that many individuals with Klinefelter’s syndrome don’t experience significant cognitive or psychological problems and many are highly successful
• Suggests typical picture of Klinefelter’s syndrome may be exaggerated