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Draft for Wiki Article

XXXY syndrome is a genetic disorder characterized by a sex chromosome aneuploidy, where males have two extra X chromosomes.^[1] Males typically have only two sex chromosomes, an X and a Y. The presence of one Y chromosome with a functioning SRY gene causes the expression of genes that determine maleness. Because of this, XXXY syndrome only affects males. The additional two X chromosomes in males with XXXY syndrome causes them to have 48 chromosomes, instead of the typical 46. So, XXXY syndrome is often referred to as 48, XXXY. There are a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, Taurodontism, and infertility. This syndrome is usually inherited via a de novo mutation in the parents’ gametes, as those affected by it are usually infertile. It is estimated that XXXY affects one in every 50,000 male births^[2].

Cause

The most likely scenario for the existence of this aneuploidy is that each parent (maternal and paternal) equally contributed to it, by the mother giving an XX and the father giving an XY.

Mechanism

The additional X chromosomes that are characteristic of this condition are associated with an androgen deficiency. This causes reduced or absent feedback inhibition of the pituitary gland, by elevating the gonadotropin levels.

Cognitive and Developmental Symptoms

Individuals with XXXY syndrome exhibit cognitive and behavioral problems. Patents typically show altered adaptive behavior, which is the ability of an individual to demonstrate essential living skills, including: social skills, community living, safety, functional use of academic skills and self-care. People with XXXY syndrome were found to score significantly less in the domains of daily living skills and communication compared to XXYY, and XXY individuals. This means that they typically demonstrate little ability in the domains of self-care, social skills, safety, application of academic skills, and responsibility.

Individuals with this syndrome also experience emotional symptoms such as anxiety symptoms, obsessive-compulsive behaviors, behavioral dysregulational and emotional immaturity. People with this syndrome typically have an IQ in the range of 40-60, where the average IQ range is 95-110. They also experience language-based learning disabilities that can affect their communication with others. Those with XXXY syndrome tend to displays less externalizing and internalizing behaviors compared to those with 48, XXYY syndrome, which may have a positive effect on their social functioning. These individuals may also have increased vulnerability for autistic features. Changes in testosterone as well as androgen deficits may contribute to these individuals’ social behaviors that put them at increased risk for autistic features.

Physical

Individuals affected with XXXY are also prone to developing Taurodontism, which often presents early in life, and can be an early indicator of XXY syndrome. Those with this syndrome are also prone to hip dysplasia, and other joint abnormalities. An individual’s symptoms vary due to differing androgen deficiencies, and also with alter with age.  Prepubescent boys with XXXY syndrome may not differ in physical appearance from a child without the syndrome. This is likely because androgen levels do not differ among pre-pubescent boys, but a difference does arise as puberty progresses. Those with XXXY syndrome may also experience feminine distribution of adipose tissue, and gynecomastia may also be present. Tall stature is more likely to appear in adolescence, when androgen levels begin to differ between those with XXXY syndrome and those that are not.

Treatment

Although, treatments exist for the various symptoms associated with the syndrome. Testosterone therapy, which giving affectd individuals doses of testosterone on a regular basis, has been shown to  reduce aggressive behavior in these patients. But, this therapy has also been associated with negative side effects, such as worsening of behavior, and osteoporosis. Also, not all individuals are applicable for testosterone therapy, as the best results are often achieved when dosage begins at the initiation of puberty, and these individuals are often diagnosed at a later age, or not at all. Testosterone therapy has been shown to have no positive effect on fertility. Consideration of the psychological phenotype of those afflicted with XXXY should be taken into account when treating these patients, because these traits affect compliance with treatments. Taurodontism, when not caught early, can be treated with a root canal and is often successful. Appropriate planning to avoid root-canal therapy is possible, but this syndrome must be diagnosed early, which is not common. Taurodontism can often be detected as a symptom of XXXY syndrome before other characteristics develop, can be an early indicator for it.  Surgical treatments to correct joint problems, such as hip dysplasia are common, and are often successful alongside physiotherapy.

Diagnosis

The diagnosis range is likely due to the fact that XXXY is a rare syndrome, and does not cause as extreme phenotypes as other variants of Klinefelter syndrome (such as XXXXY).

Quality of Life

In mild cases, those afflicted with XXXY syndrome may lead a relatively good life. These individuals may face difficulties in communicating with others due to their language-based deficits. These deficits may make forming bonds with others difficult, but it is still very possible. Those with higher scores in adaptive functioning are likely to have higher quality of life because they can be independent.

References

Outline for Wiki Article + Possible Citations

1. Quality of life
2. Detection of the additional chromosome
   1. methods other than karyotyping,
   2. Where DNA isolated from
3. Management of the disease
   1. treatments for various symptoms
4. Implications of distinguishing XXXY Syndrome from XXY Syndrome (Klinefelter syndrome)
5. Additional symptoms not yet mentioned
   1. Taurodontsim
   2. Hip dysplasia
6. Prognosis
7. History (identification of disease, etc)
8. Epidemiology

Sources:

- https://www.nature.com/gim/journal/v13/n7/abs/gim92011103a.html

- https://journals.scholarsportal.info/pdf/19405510/v15i0004/328_sfimxacdxxxx.xml

- http://www.sciencedirect.com/science/article/pii/S107921040700858X

- http://onlinelibrary.wiley.com/doi/10.1111/j.1651-2227.2011.02235.x/full

- http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_655.pdf

Possible topics:

XXXY syndrome : I would add to the management section, and edit grammar in the existing article. I would also talk about the quality of life for people with this condition, add to the signs and symptoms, and talk about the prenatal environment of people with this condition.

TATA box : I would elaborate on the role of the TATA box in eukaryotic transcription, and give examples of genes where it is present.

Coding strand : I would elaborate on the process of transcribing the coding strand, and give examples of possible products from it (both RNAs and proteins). I would also include information about the protein complexes involved in transcribing and translating the coding strand, and how the proteins determine which strand is the coding strand in various instances.

Article Evaluation

Selective breeding

- A more concise and accurate definition of selective breeding is needed, the current definition is quite lengthy and not necessarily correct.

- The second sentence of the second paragraph needs a cite, and is worded in an awkward way.

- There are a lot of run-on sentences.

- A lot of topics are briefly touched upon and could be expanded.

- Spends a lot of time describing phenotypes of examples, but not enough time explaining the science behind selective breeding.

- A lot of information is repeated from pages about scientists that contributed to the understanding of selective breeding, which is not necessary since it is already in another wiki article.

- The viewpoint of Charles Darwin is over-represented in this article. There are many more scientists that contributed to the study of selective breeding that could have given different perspectives.

- Very little written on plant selective breeding although there are many studies on it, and it has had a major impact on our understanding of selective breeding.

- The use of the phrase "genetic improvement" is unscientific. Genes are not improved, but selected upon by the environment.

- The references used by this author are very old, some from 1959. The newest reference is only from 2012 which is 5 years old. Information from some newer studies should be incorporated.

- On the talk page a lot of other wikipedians stated that this article duplicates a lot of what is said in other wikipedia articles.

- A lot of the references are other wikipedia articles, which is not very reliable.

- The article seems biased toward humans in that it calls selective breeding "an improvement" on the genes of animals, when in fact selective breeding has had a lot of negative consequences for the animals and plants.

- The talk page was most recently added to in 2015 (2 years old), another indicator that this page needs o be updated with newer studies.

- The article itself is given a rank C and Top importance.