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What is Triple X Syndrome?



Introduction

If you have one extra X chromosome, you’re most likely a female that has this rare genetic disorder called Triple X Syndrome. It’s nothing too much to worry about since it’s really not life-threatening. Additionally, not everyone would be diagnosed with this throughout their entire lives!

 

Background

Triple X Syndrome, or Trisomy X, is a condition that causes females to be taller than average. Apart from that, the patient may not even have any noticeable symptoms. It occurs when the female patient carries an extra X chromosome, giving them 47 total chromosomes in their genes. Since it can’t be genetically inherited, it occurs randomly during nondisjunction part of the cell division.


Earlier in my introduction, I mentioned that the patient might not be diagnosed with this condition entirely despite gaining an extra X chromosome- it’s quite common. However, to see if you’re diagnosed or not, you would have to go through genetic testing. The tests are either karyotyping or chromosome microarray.

 

Potential Risks

Though there aren’t actual symptoms to this condition, there are risks that follow if diagnosed. According to medlineplus.gov, Triple X Syndrome is typically “associated with an increased risk of learning disabilities and delayed development” in motor or behavioral abilities. From Cleveland Clinic, they’ve listed the potential symptoms of Triple X Syndrome:


Physical characteristics

-       Wide-spaced eyes (hypertelorism).

-       Vertical skin folds that cover the inner corners of the eyes (epicanthal folds).

-       Curved or bent little fingers (clinodactyly).

-       Poor muscle tone (hypotonia).


Neurological conditions

-       Developmental delays.

-       Learning disabilities.

-       Attention-deficit/hyperactivity disorder.

-       Mood disorders like anxiety and depression.

-       Mild cognitive impairment.


Other medical conditions (rare)

-       Autoimmune conditions.

-       Differences in heart structure.

-       Frequent urinary tract infections.

-       Genito-urinary deformities or malfunctions.

-       Kidney abnormalities.

-       Premature ovarian aging or failure.

-       Seizures.


Figure 1. From an Australian community blog page called My Plan Manager, Poppy (pictured) was diagnosed with Trisomy X and her mother, a My Plan Manager’s consultant used the platform to raise awareness about the disorder.

 

Treatment

Since this syndrome has no cure, there are options for treatment if the diagnosed patient needs it. According to Mayo Clinic, they offer periodic screenings, early intervention services, educational assistance, supportive environment & counseling, and assistance in daily functioning. Or simple measures to support the diagnosed patient could be connecting with them one-on-one to see what their needs are, looking for other disability support resources, and finding ways to relieve stress. There’s no single solution to solve every disorder in the world, but at least Triple X Syndrome isn’t one of the worser disorders out there.

 

References


Cleveland Clinic. (2023). Triple X Syndrome. Retrieved from Cleveland Clinic: https://my.clevelandclinic.org/health/diseases/17892-triple-x-syndrome


Mayo Clinic. (n.d.). Triple X syndrome. Retrieved from Mayo Clinic: https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/diagnosis-treatment/drc-20350981


MedlinePlus. (n.d.). Trisomy X. Retrieved from MedlinePlus: https://medlineplus.gov/genetics/condition/trisomy-x/


My Plan Manager. (n.d.). Heidi’s daughter has Triple X syndrome – and she wants you to know what it is. Retrieved from My Plan Manager: https://myplanmanager.com.au/heidis-daughter-has-triple-x-syndrome/ Assessed and Endorsed by the MedReport Medical Review Board


 

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