The syndrome Triple X

Description

Triple X syndrome, also called trisomy X or 47,XXX, is a genetic disorder that affects approximately 1 out of every 1,000 women. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In the syndrome, triple X, a female has three x chromosomes.

Many girls and women with down syndrome, triple-X experience no symptoms or only mild symptoms. In others, the symptoms may be more apparent — possibly including developmental delays and learning disabilities liveerotic. Seizures and kidney problems occur in a small number of girls and women with syndrome of triple-X.

Treatment for the syndrome triple X depends on the symptoms, if any, are present and their severity.

Symptoms

The signs and symptoms can vary greatly among girls and women with syndrome triple X. Many do not experience noticeable effects or only have mild symptoms.

Be higher than the average height is the most typical physical characteristic. The majority of women with triple X syndrome experience normal sexual development and have the ability to get pregnant. Some girls and women with syndrome triple X have intelligence in the normal range, but possibly slightly lower when compared with the brothers. Others may have intellectual disabilities and it can sometimes have behavioral problems.

Sometimes significant, may occur symptoms, which vary among individuals. These signs and symptoms may be present as:

  • Delayed development of speech and language skills, as well as motor skills, such as sitting and walking
  • Learning disabilities, such as the difficulty of reading, comprehension, or math
  • Behavior problems, such as attention-deficit/hyperactivity disorder (ADHD), or symptoms of autistic spectrum disorder
  • Psychological problems, such as anxiety and depression
  • Problems with fine and gross motor skills, memory, judgment, and information processing

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

  • Vertical skin folds that cover the inner corners of the eyes (epicanthal folds)
  • Widely spaced eyes
  • Curve pinky
  • Flat feet
  • Breastbone with an arc shape toward the inside
  • Weak muscle tone (hypotonia)
  • Seizures
  • Problems with the kidneys
  • Ovaries that do not work correctly at a young age (premature ovarian failure)

When to see a doctor

If you are concerned about any of the signs or symptoms, make an ap -pointment to speak with your family doctor or pediatrician, who can help determine the cause and suggest appropriate action.

Causes

Although the syndrome triple X is genetic, it is not usually inherited, is due to a random genetic error.

Typically, people have 46 chromosomes in each cell, arranged in 23 pairs, including two sex chromosomes. A set of chromosomes are from the mother and the other set is from the father. These chromosomes contain the genes, which carry the instructions that measuredine of everything from height to eye color.

The pair of sex chromosomes — either XX or XY determines the sex of the future baby. A mother can give the child only one X chromosome, but a father can pass on an X or a y chromosome:

  • If the child receives an X chromosome from the father, the XX couple the child is genetically female.
  • If the child receives a y chromosome from the father, the pair XY means that the child is genetically male.

Women with triple X syndrome have a third chromosome X of a random error in cell division. This error can occur prior to conception or early in the development of the embryo, resulting in one of these forms of the syndrome triple X:

  • The non-disjunction. In most cases, the mother's egg or the father's sperm cell divides incorrectly, resulting in an extra X chromosome in the child. This random error is called non-disjunction, and all the cells in the body of the child will have the extra X chromosome.
  • Mosaic. Occasionally, the extra chromosome results from an incorrect cell division caused by a random event early in the development of the embryo. If this is the case, the child has a mosaic form of triple X syndrome, and only some cells have the extra X chromosome. The women with the mosaic form may have less obvious symptoms.

Triple X syndrome is also called the 47,XXX syndrome due to the extra X chromosome results in 47 chromosomes in each cell, instead of the usual 46.

Risk factors

There are important risk factors for syndrome Triple X. most of the cases are due to a random error in cell division in the stem, for exampleg, the sperm of his father, or when the embryo is developing.

Complications

Although some women may have mild or no symptoms associated with the syndrome, triple X, the other the experience of development, psychological, and behavioral problems that can lead to a variety of other topics, including:

  • Work, school, social and relationship problems
  • Low self-esteem
  • Need of additional support or assistance with learning problems, activities of daily living, school, or work

The syndrome Triple X

Diagnosis

Because many girls and women with the syndrome, triple X that are healthy and show no external signs of the disease may remain undiagnosed throughout their life, or the diagnosis may be discovered while checking for other issues. Triple X syndrome can also be detected during prenatal testing to identify other genetic disorders.

During pregnancy, a sample of the mother's blood can be tested to see if the baby's DNA. If the test shows an increased risk of syndrome triple X, a sample of fluid or tissue from inside the uterus can be collected. Genetic testing of the fluid or tissue will show if there is an extra, third chromosome X.

If triple X syndrome is suspected after birth based on signs and symptoms, it can be confirmed by genetic testing. In addition to genetic testing, genetic counseling can help to complete information about the syndrome, triple-X.

Treatment

The chromosomal error that causes the syndrome triple X can not be repaired, so that the syndrome has no cure. The treatment is based on symptoms and needs. Options that may be useful includesof:

  • Periodic testing of detection. The doctor may recommend periodic screenings throughout childhood and into adulthood. If any of the developmental delays, learning difficulties or health problems occur, prompt treatment can be provided.
  • The early intervention of services. These services may include speech, occupational, physical, or development of the therapy, from the first months of life or as soon as needs are identified.
  • Educational assistance. If your child has a learning disability, education, help to learn techniques and strategies to succeed in school and in everyday life can be provided.
  • Environment of support and advice. Girls and women with syndrome triple X may be more prone to anxiety, as well as emotional and behavioral problems. So make sure that your child has a supportive environment. Psychological counseling can help you teach you and your family how to demonstrate the love and the encouragement and discourage behaviors that could negatively affect the learning and social functioning.
  • Assistance and support in daily functioning. If your child has problems that affect the daily operation, assistance and support may include assistance with activities of daily living, social opportunities and employment.

Coping and support

It is very possible that girls and women with syndrome triple X to lead a happy and fulfilling life. Sometimes, however, the help and support they need. Both you and your child can benefit from these strategies:

  • Connect with others. Support groups to provide help and support for people with X and the y chromosome disorders and their families. Provide information and advice on coping, as well as the ways to meet and talk with other people in similar situations. Ask your doctor or therapist if there is a local support group for people with similar types of disorders. You can also contact AXYS — the Association for X and y Chromosome Variations.
  • Find resources disability support. Coping with a learning disability is a challenge. To obtain information on available services and sources of support. An example is the National Center for Learning Disabilities. Ask your child's school or therapist to get information about other resources.
  • Finding ways to relieve stress. It is natural to feel overwhelmed at times. Discuss your concerns with a trusted friend or family member to help relieve your stress. Take some time for yourself doing something that you like to do. Seek the help of outside caregivers who can give you a break once in a while.

Preparing for your appointment

Here's some information to help you prepare for andto our appointment, and what you can expect from your health care provider. You may bring a family member or friend to the appointment to support and help to remember the information.

What you can do

Before your appointment, make a list of:

  • Any signs or symptoms that you have noticed in your child, including any that may seem unrelated to the reason for the appointment
  • Your child's developmental milestones and when they were met, such as learning to say the first words or learning to walk
  • Key personal information about your pregnancy, including any major diseases that you may have experienced or any of the medicines that have been used
  • Any problem that your child may have with learning, emotions, or behavior
  • Questions to ask your doctor

Some basic questions to ask the health care provider include:

  • What is the most likely cause of the symptoms of my son?
  • What kind of evidence does my child need? Do these tests require any special preparation?
  • How would 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?
  • What services are available if my child has developmental delays or learning disabilities?
  • There are pamphlets or other printed material I can have? What sites do you recommend?

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

What to expect from your doctor

Your doctor will probably ask you several questions. Be prepared to respond to them to reserve time to go over the points you want to focus on. Your health care provider may ask:

  • When did you first notice the symptoms of your child?
  • Nothing seems to improve the symptoms?
  • What, if anything, appears to worsen your symptoms?
  • His son did achiefive developmental milestones at the time, such as learning to speak or walk?
  • Has your child had problems in the school or in other settings?

Your doctor will ask additional questions based on the answers, the symptoms and needs. Prepare and anticipate the questions will help you make the most of your appointment time.

Symptoms and treatment of syndrome Triple X