What you should know about Triple X Syndrome (Trisomy X) [supervised by a physician].

What is Triple X Syndrome (Trisomy X)?

It is a sex chromosome abnormality and occurs only in females.

Triple X syndrome was said to be superfemale. However, superfemale is a name that is no longer used.

What is a sex chromosome abnormality?

There are two types of chromosomes: sex chromosomes and autosomes. A congenital abnormality in a sex chromosome is called a sex chromosome abnormality.

The role of chromosomes is to store the human blueprint

Chromosomes are found in human cells. The main structure of chromosomes is composed of DNA and histones; DNA is like a blueprint for human beings, and the human body is built on the basis of the blueprint.

Humans have a total of 46 chromosomes per cell,、

• 44 autosomal chromosomes (numbered 1 to 22)
• two sex chromosomes

The following is a breakdown of the

What you should know about Triple X Syndrome (Trisomy X) [supervised by a physician].

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Sex chromosomes are sex-determining

Two sex chromosomes are considered normal in humans. There are two types of sex chromosomes, X and Y. The combination of the two chromosomes is

• X chromosome and X chromosome (XX) would be female
• X and Y chromosomes (XY) would be male

Triple X syndrome (trisomy X) is an abnormality in which one sex chromosome is increased

Triple X syndrome (trisomy X) occurs only in females, and the female sex chromosome combination is an X chromosome and an X chromosome (XX). However, when the abnormality occurs, another X chromosome is added (XXX).。

When you have three sex chromosomes, you have an extra human blueprint. As a result, extra body parts are created, which can have a variety of effects on the human body.

Characteristics of Triple X Syndrome (Trisomy X)

Triple X syndrome (trisomy X) results in a mildly disfiguring appearance. Compared to a normal person, the appearance is almost the same. In some cases, it is discovered during tests for other diseases.

However, there are subtle differences,

• Taller than average
• Lighter than average weight
• Hand curvature (mainly the little finger bends)
• having long legs
• verrucous inner corner of the eye^{note 1}have
• Distance between pupils^{note 2}is long

The manifestation of the feature varies from person to person; some people have one, while others have more than one.

1 Inner eye horn flap: Also called “mongolian folds”. One of the causes of inverted eyelashes.
2 Distance between pupils: Distance from the center of the right black eye to the center of the left black eye.

Causes of Triple X Syndrome (Trisomy X)

It is caused by the transmission of an extra X chromosome from the mother to the child. The extra X chromosome occurs due to chromosome disjunction. The older the mother is, the more likely she is to have chromosome segregation.

Chromosome disjunctions are caused by meiotic failure

Meiosis is a phenomenon in which one cell contains one sex chromosome

The purpose of meiosis is to produce eggs and sperm. Meiosis is the process of copying chromosomes and dividing into four cells. The reason for the above process is to maintain “two sex chromosomes in one cell” after fertilization*1.

The female sex chromosome was XX, right?

For example, let’s say the four cells are A-D,

• One X chromosome in A cell
• One X chromosome in B cells
• One X chromosome in a C cell
• One X chromosome in a D cell

is a normal state of meiosis.

1 Fertilization: The union of an egg and sperm. The combined product will eventually grow into a baby. Focusing on sex chromosomes, one sex chromosome of the mother and one sex chromosome of the father are combined, so the number of sex chromosomes in the child is two.

Meiotic disjunction is a phenomenon in which multiple X chromosomes are present in a single cell.

In contrast, in meiotic disjunctions, one of the four cells may contain two X chromosomes.

For example, if four cells were considered A-D,

• One X chromosome in A cell
• Two X chromosomes in B cells
• 0 X chromosomes in C cells
• One X chromosome in a D cell

You see two X chromosomes in one cell (B cell). This condition is called chromosome segregation.
Suppose that the cell in which the chromosome disjunction occurred (the B cell) becomes an egg. If the egg is fertilized by a sperm with the father’s X chromosome, the baby born will have triple X syndrome (trisomy X) with three X chromosomes.

Triple X Syndrome (Trisomy X) Symptoms and Signs

There are no clear signs and symptoms are mild. However, without the support of parents and others, the child may not be comfortable.

Symptoms,

• learning disability
• Delayed development
• Delayed emotional and expressive development
• Delayed development of motor skills

In addition, back disorders during adolescence^{note 1}and the risk of psychiatric disorders has also been identified.

1 Back disorders: disorders of the back of the body. Typical disorders are herniated discs.

Probability of developing Triple X Syndrome (Trisomy X)

It occurs at a rate of 1 in 1000. However, the older the mother is, the more likely she is to develop Triple X Syndrome (Trisomy X) than 1/1000.

When do you know if you have Triple X Syndrome (Trisomy X)?

For Inspection.NIPT (New Prenatal Diagnosis)The pregnancy will be confirmed by an ultrasound scan before the first You will know the results within a week. If not, it is when you and your child notice symptoms.

However, there have been confirmed cases in which the symptoms and features are so mild that even if it is Triple X Syndrome (Trisomy X), it goes unnoticed.

How to Test for Triple X Syndrome (Trisomy X)

There are two types of tests: definitive and nonconfirmatory. If the nonconfirmatory test is positive or the decision is reserved, the patient will proceed to the confirmatory test.

NIPT (new prenatal diagnosis), a nonconclusive test

The earliest nonconclusive test that can be performed after conception isNIPT (New Prenatal Diagnosis)and can be done immediately after the pregnancy is confirmed by ultrasound. Through the Internet, results are delivered within 8 days of blood collection for 95% of patients (*excluding some plans). In addition, an express delivery option is available at all HIRO CLINIC NIPT clinics except the affiliated facilities (delivery in as little as 2 days after blood collection).

1 Usually within 3-6 days for some hospitals and cooperative facilities.
2 Excluding certain plans

NIPT (New Prenatal Diagnosis)The accuracy of the test is considered to be 99%. Furthermore, since the test results are obtained only by drawing blood, there is little risk of miscarriage or stillbirth to the mother.

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definitive test

The definitive tests are the chorionic villus test and the amniotic fluid test. Both tests involve a needle in the mother’s abdomen and carry the risk of miscarriage and bleeding. The probability of miscarriage from a trophoblastic or amniotic fluid test is around 0.2% to 1%.

What you should know about Triple X Syndrome (Trisomy X) [supervised by a physician].

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Treatment of Triple X Syndrome (Trisomy X)

There is no cure for Triple X Syndrome (Trisomy X) because as of 2021, there is no established treatment for reducing the number of sex chromosomes from three to two.

However, there are ways to cope with the symptoms that appear with Triple X Syndrome (Trisomy X). As a parent, you should be prepared before birth to provide for your child.

If you are diagnosed with Triple X Syndrome (Trisomy X)

If your baby has been diagnosed with Triple X Syndrome Trisomy X, do not worry too much. This is because the stress caused by excessive worry will affect your baby.

How Mother’s Stress Affects the Baby

Poor nutritional support for the baby

Stress in the mother can affect the nutritional status of the baby. The reason is that stress reduces blood flow. Stress causes muscles to remain contracted and blood vessels to narrow.

If we compare roads to blood vessels and nutrition to automobiles, which would allow more automobiles to pass on a narrow road or a wide road? A wide road, right? Similarly, narrow blood vessels also reduce blood flow, and less nutrients reach the baby.

Risk of premature birth or miscarriage

Stress can lead to hormonal imbalance and risk premature birth or miscarriage. Specifically, it is believed that this is because it is difficult for nutrients to reach the baby through the umbilical cord.

narrowing of the uterus

When you are stressed, not only your hands and feet but also your abdomen become stronger. As a result, the uterus narrows.

When the uterus narrows,

• The baby’s place becomes smaller.
• Umbilical cord and placental function are affected.
• Narrow birth canal during childbirth

There will be adverse effects such as

What you should know about Triple X Syndrome (Trisomy X) [supervised by a physician].

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Triple X Syndrome (Trisomy X) and Genetic Counseling

Some of you have a child diagnosed with Triple X Syndrome (Trisomy X) and you just can’t shake the anxiety. In this case, we recommend genetic counseling by a certified genetic counselor. The reason why we are certified genetic counselors is because we specialize in genetic counseling.

A certified genetic counselor is a health and medical professional. They provide psychological support as well as accurate information on genetic treatment.

In addition to the inspection, Hiro Clinic NIPT is staffed by specialists from the Japanese Society of Obstetrics and Gynecology, prenatal consulting pediatricians, and clinical geneticists.

As mentioned earlier, a mother’s stress can affect her baby. If the diagnosis causes you to become overly concerned about your surroundings or to lose control of your anxiety, Would you also consider genetic counseling?

Rehabilitation of Triple X Syndrome (Trisomy X)

You should look for a rehabilitation center in your area.

By medical treatment,

• learning disability
• Delayed development
• Delayed emotional and expressive development
• Delayed development of motor skills

This is because it may be possible to solve or alleviate problems that occur in

Rehabilitation is a combination of treatment and education, and we will create a rehabilitation program that fits your child’s needs, taking into consideration each child’s individual developmental status. By implementing the rehabilitation program, we aim to resolve the child’s problems, achieve independence, and participate in society.

Triple X Syndrome (Trisomy X) and Family Support

You recognize and address your child’s SOS

Even if symptoms are mild, family support is necessary. Isn’t it very difficult for a child to be aware of his/her symptoms and to complain to you? Ideally, you should be aware of your child’s symptoms.

If further symptoms appear, look for a recuperation center or a high-risk herniated disc treatment period so that you can take care of them as soon as they appear.

Give them a variety of experiences

In addition to medical education, you can help prevent or improve symptoms by exposing your child to a variety of experiences.

For example, one of the risks was a herniated disc, right?

Providing your child with opportunities for exercise from you will develop the muscles in the back. This will also help prevent herniated discs.

summary

Triple X syndrome (trisomy X) is mild in symptoms and external features. However, it does not mean that as a parent you have to do nothing. If your child is showing symptoms, he or she is suffering from them until you notice. Why not start preparing now to ease your child’s suffering as much as possible?

First, we start with an inspection.

If you know through testing that your baby has Triple X Syndrome (Trisomy X), you as a parent can begin now to prepare your child for a comfortable life. As a result, your child will suffer less from symptoms for a shorter period of time and will be able to live a life without any inconvenience, even if he or she has symptoms.

World-class NIPT

Experience unparalleled excellence in Non-Invasive Prenatal Testing (NIPT) at Hiro Clinic. Our world-class services blen...