Atypical Sex Chromosome Patterns

• Atypical sex chromosome patterns 


  Any sex chromosome patterns that deviates from the usual XX/XY formation and which tends to be associated with a distinct pattern of physical and psychological symptoms
• What is Klinefelter's syndrome 


  It affects about 1 in 600 males. They have an extra X chromosome (47 XXY). It's not inherited from parents, it happens randomly when genes form. 10% of cases are identified prenatally. The besties don't function properly and don't produce testosterone. They have reduced fertility, they're taller than expected. It can lead to having weak bones, or type 2 diabetes. Diagnosis are confirmed with blood tests - testosterone levels.
• What are physical characteristics of Klinefelter's Syndrome


  Reduced body hairs

  Possible breast development.

  Softening / rounding of body contours

  Long limbs

  Underdeveloped genitals
• What are Psychological Characteristics of Klinefelter's Syndrome


  Poor language skills

  Poorer reading ability

  Passive

  Shy

  Lack sexual drive

  Sometimes have problems with memory and problem solving
• What is Turners Syndrome 


  It effects girls

  1/5000 girls get it.

  Caused by the absence of one of the two X chromosomes - referred to as XO. This means they have 45 chromosomes rather than 46.

  Its inherited by age or randomly based on genes

  They have shorter ovaries - may not have periods and have white necks

  IQ isn't effected

  May have problems with the heart or thyroid gland
• What are physical characteristics of Turners Syndrome 


  No menstrual cycle

  Failed ovary development

  Sterile

  Don't develop breasts at puberty

  Hips not bigger than their waist

  Tend to retain appearance of pre-pubescent girl.
• What are Psychological Characteristics of Turners syndrome 


  Higher reading ability

  Spatial / visual memory and math tasks are poor, below average

  Immature appearance

  Socially immature

  Trouble relating to peers and 'fitting in'
• Strengths of atypical sex chromosome patterns

  Research into both KS and TS has allowed for early intervention with hormone treatment and in same cases the freezing of sperm/eggs to counteract the infertility of both groups.
• Strengths of atypical sex chromosome patterns

  The identification of KS and TS has led to the growth of online support groups for the individuals with the syndromes and their relatives where they can be well informed about advances in knowledge and treatment and communicate.
• Strengths of atypical sex chromosome patterns 


  It contributes to the nature vs nurture debate. By comparing people who have these syndromes with chromosome - typical individuals, its possible to see psychological and behavioural differences between 2 groups.
• Strengths of atypical sex chromosome patterns 


  Could be logically inferred that these differences have biological basis - result of abnormal chromosome structure.
• Strengths of atypical sex chromosome patterns


  Earlier diagnosis - Australian study - those treated young had significant benefits - practical application
• Weaknesses of atypical sex chromosome patterns 


  Ignores individual differences in symptoms as it assumes everyone has the same physical and psychological characteristics.
• Weaknesses of atypical sex chromosome patterns 


  Lacks population validity - Those who are diagnosed have severest symptoms and excludes those with milder symptoms.