atypical sex chromosomes patterns

Cards (9)

  • Klinefelterns syndrome occurs in about 1 in 600 males. Individuals who have this condition are biological males with male anatomy but they have an additional X chromosome so their chromosomal structure is XXY. Diagnosis often comes about accidentally via a medical examination for some unrelated condition
  • physical characteristics of klinefelters syndrome are:
    • reduced body hair compared to a typical male
    • some breast development at puberty
    • underdeveloped gentials
    • more susceptible to health problems that are usually associated to females such as breast cancer
  • psychological characteristics of klinefelters syndrome are:
    • poorly developed language skills and reading ability
    • passive, shy and lacking interest in sexual activity
    • tend not to respond well to stressful situations
    • problems with executive functions such as problem solving
  • Turners syndrome is cause by an absence of one of the X chromosomes in women so their chromosomal structure is X0. It occurs in 1 in 5000 women.
  • physical characteristics of Turner’s syndrome are:
    • no menstrual cycle as their ovaries fail to develop, leaving them sterile
    • a broad chest and no developing of breasts at puberty
    • low set ears with webbed neck
    • hips are not much bigger than waist
  • psychological characteristics of turner’s syndrome are:
    • higher than average reading ability
    • lower than average performance on spatial, visual memory and mathematical scores
    • tendency to be socially immature
  • One strength of the research is its contribution to nature-nurture debate. Comparing both chromosome typical and atypical individuals highlights psychological and behavioural differences. For example, Turner’s syndrome is associated with higher verbal activity. It might be logically inferred that these differences have a biological basis and are a direct result of the abnormal chromosomal structure. This would suggest that innate nature influences have a powerful effect on psychology and behaviour
  • One strength is research has application to managing the conditions. Continued research into atypical sex chromosomal patterns leads to earlier and more accurate diagnosis and posigive outcomes. A study of 87 individuals with Klinefelter’s syndrome showed that those identified when young benefitted in terms of managing their condition. This suggests that increased awareness of these conditions has real world application
  • One limitation is there may be a sampling issue. Generally only those people who have the most severe symptoms are included in the Klinefelter’s database, therefore the typical profile may be distorted. The use of prospective studies show the majority of those with Klinefelter’s dont have cognitive or psychological problems, and many are highly successful. This suggests that the typical picture of Klinefelter’s and Turner’s may be exaggerated