Triple X Syndrome : Causes-Symptoms-Diagnosis-Treatment

 What Is Triple X Syndrome?

Trisomy X, also called triple X syndrome or forty seven,XXX, is characterized by the presence of a further X chromosome in each of a female's cells. Although girls with this circumstance may be taller than common, this chromosomal trade normally causes no uncommon bodily functions. Most ladies with trisomy X have everyday sexual improvement and are able to conceive children.

Trisomy X is related to an extended hazard of mastering disabilities and delayed development of speech and language capabilities. Delayed development of motor competencies (including sitting and strolling), vulnerable muscle tone (hypotonia), and behavioral and emotional problems also are possible, however those characteristics vary widely. Seizures or kidney abnormalities arise in approximately 10 percent of affected ladies.

What Is Triple X Syndrome?
Triple X Syndrome

Most humans are born with 46 chromosomes which might be divided into 23 pairs. Chromosome pairs carry genes from every discern, which determine a person’s bodily characteristics, like their peak or eye color. The 23rd pair of chromosomes decide whether or not someone is born male or female. People who're born female generally have two X chromosomes. 

Triple X syndrome (additionally known as trisomy X syndrome, XXX syndrome, or forty seven,XXX) is a rare genetic condition where girls inherit an additional X chromosome. For a few females with triple X syndrome, the 1/3 X chromosome can be located in every cell in their body. For others, it's miles best observed in some of their cells.

Triple X syndrome is thought to affect approximately 1 out of each 1,000 lady infants born. This wide variety should doubtlessly be a whole lot better because many women with the condition won't ever be recognized in the event that they do not now have any apparent physical symptoms or developmental problems.

Here is what you need to realize approximately what causes triple X syndrome, its signs and symptoms, and how it's far diagnosed and treated.

  1. Medical And Anatomical Concept Of The Human Body

Medical terms

  • Triple X syndrome is a rare genetic situation that impacts best women. It also can be called trisomy X syndrome or 47,XXX. A trisomy is a genetic condition in which there are three copies of a chromosome. Males and ladies are generally born with 46 chromosomes generally, arranged in 23 pairs. One replica of each chromosome within the pair comes from the mother, and the other replica within the pair comes from the daddy. The twenty third chromosome pair is called the sex chromosomes. Normally, ladies have two X chromosomes, whilst males have one X chromosome and one Y chromosome. Triple X syndrome occurs whilst a girl is born with an extra X chromosome, and consequently has a total of forty seven chromosomes.
  • For some ladies and women with triple X syndrome, all of their cells comprise three X chromosomes. In different ladies with triple X syndrome, some cells have 3 X chromosomes whilst different have the standard two X chromosomes — that is referred to as mosaicism. The degree of mosaicism (the number of cells with three X chromosomes) may range from a small percent to close to a hundred%.
  • Triple X syndrome, also known as trisomy X or 47,XXX, is a genetic disease that impacts about 1 in 1,000 girls. Females generally have two X chromosomes in all cells — one X chromosome from every determine. In triple X syndrome, a female has three X chromosomes.
  • Many women and girls with triple X syndrome don't experience signs or have simplest moderate signs and symptoms. In others, signs can be extra obvious — possibly along with developmental delays and studying disabilities. Seizures and kidney problems arise in a small variety of girls and ladies with triple X syndrome.
  • Treatment for triple X syndrome depends on which signs, if any, are present and their severity.
  • Although the chromosome number is not an exact science (because many chromosomes such as the sex chromosomes may not exist in all cells) the karyotype of a person with 47XXY with no other abnormalities will be 46XY/47XXY In other words this individual has two X chromosomes and one Y chromosome in each cell The extra X chromosome is referred to by many different names including Roos' Syndrome and Klinefelter's Syndrome but it is essentially the same condition.

Triple X syndrome is caused by the presence of an extra X chromosome in each cell The extra chromosome is called a supernumerary (su-pur-NUM-er-ee) chromosome Supernumerary chromosomes are not uncommon; they occur in about 1 out of every 1,000 newborns These individuals are normal except for the extra chromosome.

Symptoms Triple X syndrome

Noticeable signs and symptoms and symptoms of triple X syndrome can range substantially. Some girls don't have any obvious signs, while others have mild ones. Occasionally, the ailment reasons great problems.Signs and symptoms can vary significantly amongst ladies and girls with triple X syndrome. Many revel in no substantial effects or have best moderate symptoms.

Being taller than a common peak is the maximum regular bodily characteristic. Most women with triple X syndrome revel in normal sexual development and feature the ability to grow to be pregnant. Some ladies and ladies with triple X syndrome have intelligence inside the everyday range, however possibly barely lower when in comparison with siblings. Others can also have highbrow disabilities and occasionally can also have behavioral problems.

Occasionally, sizable signs might also occur, which vary among individuals. These symptoms and signs may additionally show up as:

  • Delayed improvement of speech and language capabilities, in addition to motor capabilities, together with sitting up and strolling

  • Learning disabilities, such as difficulty with reading, understanding or math

  • Behavioral problems, such as interest-deficit/hyperactivity ailment (ADHD) or signs and symptoms of autism spectrum disease

  • Psychological problems, such as anxiety and depression

  • Problems with fine and gross motor skills, memory, judgment and information processing

Sometimes females with triple X syndrome have these signs and symptoms and signs:

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

  • Widely spaced eyes

  • Curved pinky fingers

  • Flat feet

  • Breastbone with an inward bowed shape

  • Weak muscle tone (hypotonia)

  • Seizures

  • Problems with the kidneys

  • Ovaries that don't work properly at a young age (premature ovarian failure)

When to see a doctor

If you're concerned about any symptoms or signs and symptoms, make an appointment to talk with your family health care provider or pediatrician, who can help decide the cause and recommend appropriate action.

Causes Triple X syndrome

People usually have forty six chromosomes in every cellular. Two of the forty six chromosomes, called X and Y, are called sex chromosomes due to the fact they help decide whether or not someone will develop male or female sex characteristics. Females generally have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY).

Trisomy X results from a further reproduction of the X chromosome in every of a lady's cells. As a result of the more X chromosome, every cell has a total of 47 chromosomes (forty seven,XXX) in place of the same old forty six. A greater reproduction of the X chromosome is associated with tall stature, getting to know troubles, and other capabilities in a few affected people.

Some women with trisomy X have an extra X chromosome in only a few of their cells. This phenomenon is known as 46,XX/47,XXX mosaicism.

Although triple X syndrome is genetic, it's commonly no longer inherited — it's due to random genetic errors.

Normally, humans have 46 chromosomes in every cellular, prepared into 23 pairs, inclusive of two sex chromosomes. One set of chromosomes is from the mom and the opposite set is from the daddy. These chromosomes contain genes, which convey instructions that determine the entirety from top to eye coloration.

The pair of intercourse chromosomes — both XX or XY — determines a child's sex. A mother can supply the kid best an X chromosome, however a father can skip on an X or a Y chromosome:

  • If the child gets an X chromosome from the father, the XX pair makes the kid genetically lady.

  • If the child gets a Y chromosome from the daddy, the XY pair approaches the kid and is genetically male.

Females with triple X syndrome have a 3rd X chromosome from a random error in the mobile department. This error can appear before thought or early in the embryo's development, resulting in such a kinds of triple X syndrome:

  • Nondisjunction. In maximum cases, either the mom's egg cell or the daddy's sperm cell divides incorrectly, resulting in an additional X chromosome within the infant. This random blunders is known as nondisjunction, and all of the cells within the child's frame could have the greater X chromosome.

  • Mosaic. Occasionally, the greater chromosome outcomes from an wrong cellular department caused by a random event early inside the embryo's development. If that is the case, the kid has a mosaic shape of triple X syndrome, and only a few cells have the more X chromosome. Females with the mosaic shape might also have less apparent signs and symptoms.

Triple X syndrome is also called forty seven,XXX syndrome due to the fact that the extra X chromosome affects 47 chromosomes in each cell in place of the usual forty six.

What is the life expectancy of someone with triple X syndrome?

According to the National Center for Biotechnology Information there is no known cure for triple X syndrome Treatment is geared toward helping a person live as independently as possible People with triple X syndrome typically have normal intelligence and average life expectancy The average lifespan of someone with triple X syndrome is 46 years according to the Triple X Syndrome Association.

Is triple X syndrome a disability?

Triple X syndrome is a genetic condition caused by an extra copy of the X chromosome It affects about 1 in every 1,000 girls and most are not diagnosed until they reach puberty because they appear to be very typical girls However some signs of the syndrome may appear as early as age 2 when the girls are more hyperactive than other kids their age Between ages 3 and 5 some triple X girls have difficulty with reading and writing due to problems with coordination They also have trouble paying attention remembering things and following directions In addition some triple XXs have mild delays in speech development At this stage of life they're usually considered "clumsy" or "giggly." The clums.

What happens if a girl has an extra X chromosome?

If someone has an extra X chromosome her body may produce more than the usual amount of testosterone This can lead to a condition called polycystic ovary syndrome (PCOS) PCOS is a common cause of female infertility and menstrual problems Women with this syndrome often have enlarged ovaries that contain many small cysts A woman with PCOS may also develop excess hair growth on her face chest abdomen and back—a condition called hirsutism She may also have acne or thinning hair Women with the syndrome are also at increased risk for diabetes heart disease and endometrial cancer Many women with PCOS are overweight.

Can females have XXY syndrome?

Females with Klinefelter syndrome have an extra X chromosome The features of the syndrome are variable and may not be as obvious in females as they are in males Features include learning disabilities delayed speech development breast enlargement and infertility.

Complications Triple X Syndrome

Although some ladies can also have slight or no signs and symptoms associated with triple X syndrome, others enjoy developmental, mental and behavioral issues that can lead to a ramification of other troubles, such as:

  • Work, school, social and relationship problems

  • Poor self-esteem

  • Need for additional support or assistance with learning, activities of daily living, school or work

Diagnosis Triple X syndrome

Because many ladies and women with triple X syndrome are wholesome and show no outward signs of the condition, they'll stay undiagnosed all their lives, or the prognosis may be found whilst checking different problems. Triple X syndrome may also be determined in the course of prenatal testing to perceive other genetic disorders.

During pregnancy, a pattern of the mother's blood may be tested to check the infant's DNA. If the take a look at indicates an elevated threat of triple X

  1. Complementation test

syndrome, a pattern of fluid or tissue from in the womb can be accumulated. Genetic checking out of the fluid or tissue will display if there is an extra, 0.33, X chromosome.

If triple X syndrome is suspected after birth primarily based on signs and symptoms, it is able to be shown via genetic testing. In addition to genetic checking out, genetic counseling can help you benefit from complete facts approximately triple X syndrome.

Sometimes triple X syndrome is suspected through prenatal checking out before the child is born. Even in these instances it’s vital to get genetic checking after the toddler is born to diagnose and verify the presence of triple X syndrome. Developmental delays in woman infants or youngsters can be a sign of the ailment. Characteristic facial features may imply that a female has triple X syndrome.

If a genetic check is ordered, the pediatrician or other healthcare professional will take a blood pattern for checking out.

These tests can include:

  • Karyotype or chromosome microarray: This is used to evaluate the individual for the presence of an extra X chromosome and to determine the diploma of mosaicism (if any).

  • Prenatal genetic testing: Pregnant ladies who are at higher chance for having a toddler with triple X syndrome — mothers of advanced maternal age or ladies with triple X syndrome themselves — can be advised to go through prenatal genetic checking out, such as non-invasive prenatal testing (NIPT), amniocentesis or chorionic villi sampling (CVS).

It is quite not unusual for women and ladies to stay undiagnosed, in particular in the event that they do not exhibit clinical or developmental issues. Sometimes women find out that they have got triple X syndrome if they have issues turning into pregnant women. Some ladies can also revel in premature ovarian failure, leading to early menopause.

  1. Fluorescence in situ hybridization
  2. preimplantation genetic diagnosis

Treatment Triple X syndrome

Finding services early is essential and might significantly grow how well they assist girls live a healthier, more productive existence. Options range significantly based on how vintage a female becomes when she becomes recognized, whether or not she has sizable signs and symptoms, and the severity of these signs and symptoms.

The chromosome error that causes triple X syndrome cannot be repaired, so the syndrome itself has no cure. Treatment is primarily based on signs and symptoms and wishes. Options that may be useful consist of:

  • Periodic screenings. The fitness care company might also advocate periodic screenings all through formative years and into adulthood. If any developmental delays, learning disabilities or fitness problems occur, an activated remedy can be supplied.

  • Early intervention services. These services may consist of speech, occupational, physical or developmental therapy, beginning in the early months of existence or as soon as wishes are recognized.

  • Educational assistance. If your toddler has a studying incapacity, academic assistance to analyze techniques and strategies to achieve success in school and daily existence may be provided.

  • Supportive environment and counseling. Girls and women with triple X syndrome may be extra vulnerable to anxiety, as well as behavioral and emotional troubles. So make certain your child has a supportive environment. Psychological counseling may additionally help teach you and your own family how to demonstrate love and encouragement and discourage behaviors that might negatively affect gaining knowledge of and social functioning.

  • Assistance and support in daily functioning. If your baby has problems that affect daily functioning, this assistance and support may additionally consist of help with activities of day by day dwelling, social opportunities and employment.

Coping and support

It's quite possible for women and ladies with triple X syndrome to lead full and satisfied lives. However, every so often assistance and guidance are needed. Both you and your infant might also advantage from these techniques:

  • Connect with others. Support corporations provide help and help for people with X and Y chromosome problems and their families. They provide records and advice on coping, as well as ways to fulfill and speak with others in similar conditions. Ask your toddler's health care company or therapist if there may be a nearby aid group for humans with comparable styles of disorders. You can also contact AXYS — the Association for X and Y Chromosome Variations.

  • Look for disability support resources. Coping with a getting to know incapacity is tough. Get statistics on to be had services and sources of aid. One example is the National Center for Learning Disabilities. Ask your baby's faculty or therapist for facts on extra resources.

  • Find ways to relieve stress. It's herbal to feel beaten at times. Talk about your worries with a trusted buddy or family member to assist relieve your stress. Take some time for yourself doing something you like to do. Seek the help of out of doors caregivers who can give you a spoil every so often.

Preparing for your appointment

Here's a few facts to help you get ready for your appointment, and what you may assume out of your fitness care company. You may additionally need to convey a family member or friend to the appointment for assistance and that will help you keep in mind statistics.

What you can do

Before your appointment, make a list of:

  • Any signs or symptoms you've noticed in your child, Along with any that could appear unrelated to the purpose for the appointment

  • Your child's developmental milestones And once they were met, including mastering to say first phrases or gaining knowledge of to walk

  • Key personal information about your pregnancy, Including any sizeable ailments you may have experienced or any medicinal drugs that you may have used

  • Any problems your child may be having with learning, emotions or behavior

  • Questions to ask your child's health care provider

Some basic questions to ask the health care provider include:

  • What's the most likely cause of my child's symptoms?

  • What kinds of tests does my child need? Do these tests require any special preparation?

  • How might this condition affect my child?

  • What treatments are available, and which do you recommend?

  • My child has other health conditions. How can we best manage these conditions together?

  • What services are available if my child has developmental delays or learning disabilities?

  • Are there any brochures or other printed materials that I can have? What websites do you recommend?

Don't hesitate to ask any other questions during your appointment.

What to expect from your doctor

Your fitness care company will in all likelihood ask you several questions. Be geared up to reply to them to reserve time to move over points you want to pay attention to. Your health care issuer may also ask:

  • When did you first notice your child's symptoms?

  • Does anything seem to improve the symptoms?

  • What, if anything, appears to worsen the symptoms?

  • Did your child achieve developmental milestones on time, such as learning to talk or walk?

  • Has your child had any problems in school or other settings?

Your health care company will ask additional questions based on responses, signs and symptoms and desires. Preparing and looking forward to questions will help you make the most of your appointment time.

General summary

  1. Triple X or trisomy X is a condition involving an extra x chromosome This syndrome occurs in approximately 1 out of every 1,000 female births and the incidence is similar in males Triple X syndrome is not a single disorder; rather it is a group of related conditions that together can cause significant intellectual disability developmental delays and medical problems.

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