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Atypical sex chromosomes - Coggle Diagram
Atypical sex chromosomes
Turner's syndrome
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Individuals have 45 chromosomes, not the typical 46
Physical characteristics
No menstrual cycle, ovaries don't develop so they're infertile, don't develop breasts so they have a broad "shield" chest. Low set ears and a webbed neck. High waist to hip ratio. Physically immature and tend to resemble prepubescent girls
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Klinefelter's syndrome
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Additional X chromosome, so chromosomal structure is XXY
10% of cases identified via pre-natal diagnosis, 2/3 of people with this syndrome are unaware they have it. Diagnosis often come accidentally
Physical characteristics
Breast development, underdeveloped genitals, reduced body hair, problems with co-ordination, clumsiness, suspectible to health problems typically found in females e.g. breast cancer, long gangly libs
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A strength of research into Klinefelter Syndrome is that is enables early intervention. Detecting and intervening early in Klinefelter Syndrome has been shown to benefit individuals when it comes to coping and managing their symptoms. Herlihy et al. (2011) studied 87 Australian individuals and found that those who were diagnosed and treated early benefitted from intervention and support more than those who were not diagnosed until adulthood. This concludes that medical research into Klinefelter Syndrome is crucial in understanding the syndrome so that early detection and diagnosis can improve access to intervention for everyone.
A limitation of research into KS and TS is the reduced population validity of those who are involved. KS and TS diagnoses are easier when symptoms are severe and noticeable therefore, there is likely to be a number of people who remain unaware that they have the syndrome, with symptoms that may not be visible or problematic enough to seek medical help. This means that any research is only based on severe cases and is unrepresentative of the full spectrum of people living with the syndrome. The consequence of only studying those with severe symptoms is that we do not have insight into how milder symptoms impact on physical and psychological development.
A strength of research into Turner Syndrome is the positive implications for treatment that it has led to. Females diagnosed with Turner Syndrome can now be treated with oestrogen replacement therapy (ORT) to increase oestrogen levels that have been lowered by the absent X chromosome. This treatment will help with breast and reproductive development and may reduce the social pressures faced by girls with Turner Syndrome, increasing their confidence and making them feel more accepted. Another available treatment option is to freeze the reproductive eggs from pre-pubescent girls with Turner Syndrome, before ovarian failure. This will enable them to conceive later in life; however, there are ethical implications when subjecting young girls to such an invasive treatment. Therefore, biological investigations into the origins of Turner Syndrome have led to positive and life-changing treatments.