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Chromosomes hold vital genetic information in the form of genes, and they exist throughout the body in the cells. As you may know, humans have 23 chromosomes, and typically, a person having either XX chromosomes (female) or XY chromosomes (male) determines their sex. However, some syndromes can affect these sex chromosomes, causing many issues for those involved, known as atypical sex chromosome patterns (Klinefelter and Turner syndrome).
Sex chromosome patterns are atypical when they deviate from the typical XX/XY formations, which give us male or female characteristics.
Two prominent examples of this are Klinefelter’s syndrome and Turner’s syndrome.
Males with Klinefelter’s syndrome have an extra X chromosome (XXY), i.e., they develop small infertile testes, a slim frame, and enlarged breasts.
Females with Turner’s syndrome lack an X chromosome, leading to underdeveloped ovaries and infertility.
Klinefelter’s syndrome is when biologically male people (anatomically appear male) have an extra X chromosome, making their chromosome pattern XXY.
Although 10% of cases are diagnosed prenatally, two-thirds of people with the condition are unaware they have Klinefelter’s syndrome. In such cases, diagnosis is often made due to another health condition.
NHS England states that Klinefelter’s syndrome affects around 1 in 660 males
Reduced body hair.
Slim physique.
Tall.
Gynecomastia: breast development at puberty.
Softening of body contours.
Broad hips.
Long limbs.
Underdeveloped genitals.
Coordination problems.
Clumsiness.
More susceptible to typically female illnesses such as breast cancer.
Poorly developed reading and language skills.
Passivity.
Shyness.
Lack of interest in sexual activity, infertility.
Inability to cope with stress.
Problems with executive functions such as memory and problem-solving.
Turner’s syndrome occurs in biological females who lack an X chromosome, i.e., Turner’s syndrome patients have 45 chromosomes rather than the usual 46.
NHS England states that Turner’s syndrome affects around 1 in every 2000 femalesAmenorrhoea: a lack of menstrual cycle due to their ovaries failing to develop and being sterile as a result.
Lack of breast development leaving them with a broad ‘shield’ chest.
Low set ears.
‘Webbed neck’ (an area of folded skin that goes from the ears to the neck)
Low waist-to-hip ratio. Hips are not much bigger than the waist.
Physically immature, appearing prepubescent.
Shortness.
Above-average reading ability.
Reduced spatial, mathematical, and visual memory skills.
Socially immaturity.
Difficulty fitting in.
How would we evaluate the atypical sex chromosome patterns? Let’s look at some of their strengths and weaknesses.
First, let’s examine some of the strengths.
The existence of genetically atypical individuals means we can determine whether gender differences have a genetic basis. We can compare these individuals with chromosome-typical people. If we see psychological or physical differences between the two groups, we can infer these result from genetic differences. Thus, gender development has a biological basis, and ‘nature’ has a powerful effect on gender-related psychology and behaviour.
Research into atypical sex chromosome patterns is likely to lead to earlier and accurate diagnoses of both Turner’s and Klinefelter’s syndrome, meaning that positive outcomes are more likely for patients.
Herlihy et al. (2011) studied 87 Australian individuals with Klinefelter’s syndrome. They found that those treated from a young age had significant benefits compared to those diagnosed in adulthood, such as better treatment and services to help them.
Here are some of the weaknesses as well.
The differences between people with atypical vs typical chromosome patterns are not causal. Therefore, other factors could influence this, such as the environment or social influences.
For example, the social immaturity cited as a symptom of Turner’s syndrome could result from women with the condition being treated as younger than they are due to their immature appearance. If they look youthful, this could lead to educational problems as teachers and parents may treat them as younger and less educated than others.
Therefore, it is wrong to assume that all the symptoms associated with both syndromes are purely a result of atypical chromosome patterns, as the environment could influence them.
As we have previously discussed, the physical differences in those with Turner’s syndrome and Klinefelter’s syndrome may cause others to treat them differently, leading to psychological and social differences. This highlights the rarity of people with atypical chromosome patterns, making it difficult to generalise the results of studies using them in their sample.
Diagnosis of both syndromes assumes ‘typical’ gender behaviours. For example, stating that shy men are atypical suggests that confidence is a male characteristic, upholding societal views of a ‘typical male’. These assumptions could be problematic because the definitions of both syndromes use socially established gender norms to diagnose people with medical conditions.
Sex chromosome patterns are atypical when they deviate from the typical XX/XY formations, which give us male or female characteristics.
Males with Klinefelter’s syndrome have an extra X chromosome (XXY), i.e., they develop small infertile testes, a slim frame, and enlarged breasts.
Females with Turner’s syndrome lack an X chromosome, leading to underdeveloped ovaries and infertility.
Studying these syndromes can help to determine the nature/nurture debate.
Studies of Klinefelter’s syndrome and Turner’s syndrome can help treat the conditions more effectively.
There might be environmental influences on gender development in people with atypical chromosome patterns that biologists fail to consider.
Definitions of atypical behaviours rely on gendered notions of ‘normal behaviour’ for each gender.
We may not be able to generalise findings from studies of both syndromes due to the unique nature of the samples.
Klinefelter’s syndrome is where males have an extra X chromosome: XXY. Turner’s syndrome is where females lack an X chromosome.
Turner’s syndrome is where a female has a missing or altered X chromosome. So, they will have an X chromosome instead of the usual XX.
Causes can vary. Typically, however, it is due to the chromosomes being affected during the formation of reproductive cells (sperm and egg). For instance, nondisjunction prevents the proper distribution of X chromosomes.
The chromosome abnormality in the Klinefelter syndrome is an additional X chromosome, so males have XXY chromosomes instead of the typical XY.
The Klinefelter syndrome is not an inherited disorder, so it is neither recessive nor dominant.
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