Definition

Triple X syndrome is an abnormality of the chromosomes that affects about one in 1,000 females. Females normally have two X chromosomes, one from each parent. In triple X syndrome, a female has three X chromosomes hence, the name. Triple X syndrome isn't inherited. It usually results from a mistake in the formation of a mother's egg cell or a father's sperm cell. Sometimes, triple X syndrome occurs as a result of an error early in the embryo's development. If your daughter has triple X syndrome, know that many cases result in no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced possibly including developmental delays. Treatment for triple X syndrome depends on which symptoms your daughter exhibits and their severity.

Symptoms
Triple X syndrome usually doesn't cause any signs or symptoms. If symptoms do appear, they may include:

Tall stature Small head (microcephaly) Vertical skinfolds that may cover the inner corners of the eyes (epicanthal folds) Delayed development of certain motor skills, speech and language Learning disabilities, such as dyslexia Infertility (rare)

When to see a doctor See your doctor if you have any concerns about your daughter's developmental progress. Your doctor can help determine what may be the cause and suggest appropriate action.

Causes
Most people have 46 chromosomes, occurring in 23 pairs. These chromosomes contain genes, which contain instructions that determine everything from your height to your eye color. One of these chromosome pairs determines your sex. You receive one sex chromosome from your mother and another from your father. Your mother can give you only an X chromosome, but your father can pass on an X or a Y chromosome. If you receive an X chromosome from your father, the XX pair makes you genetically a female. If you receive a Y chromosome from your father, then your XY pair means you're genetically a male. Females with triple X syndrome have a third X chromosome. The condition isn't inherited. Instead, what usually happens is that either the mother's egg cell or the father's sperm cell has not formed correctly, resulting in an extra X chromosome. This random error in egg or sperm cell division is called nondisjunction. Occasionally, the extra chromosome doesn't appear until early in the development of the embryo. If this is the case, then the female is said to have the mosaic form of triple X syndrome. The degree to which triple X syndrome causes symptoms in a female depends in part on how many of the body's cells have the extra X chromosome. When the cause is a malformed egg cell or sperm cell, as is usually the case, all the body's cells have the extra chromosome. In the mosaic form, only some of the body's cells have the third X chromosome.

Triple X syndrome is also called trisomy X, triplo X syndrome and XXX syndrome. It's also referred to as 47,XXX syndrome because of the existence of a 47th chromosome, which is the extra X chromosome.

Complications
It's possible that learning disabilities or delayed development could eventually lead to a variety of other issues, including academic problems, stress and poor socialization skills that cause social isolation. It's important that you start taking care of these problems right away if they appear, just as you would with any learning or social problem. Talk to your doctor for treatment options and suggestions.

Preparing for your appointment

If you're concerned about your daughter's development, make an appointment to talk about it with your family doctor. Be prepared to answer questions about your experiences, and what made you want to come in the first place. It might help to write down beforehand when you first noticed anything unusual, a list of symptoms, how things have been progressing and any other details that might be relevant. You might also want to prepare a list of possible questions for the doctor, such as what the cause might be, if you need to see a specialist, what your options are, and so on. As always when seeing a doctor, the more prepared you are with specific information and questions, the better.

Tests and diagnosis

A doctor diagnoses triple X syndrome by performing a chromosome analysis of a blood sample. The disorder can be found during prenatal genetic testing, such as amniocentesis or chorionic villus sampling, but such testing is uncommon, recommended only for parents considered high risk, due to factors such as age and previous history of health problems. Triple X syndrome is also identified in older children from a chromosome analysis if the doctor notices unusual physical features and developmental delay. Because triple X syndrome usually causes few, if any, physical changes, many affected women remain undiagnosed all their lives.

Treatments and drugs

If your daughter has triple X syndrome, treatment is based on her symptoms. For instance, if she has a learning disability from the triple X, she would require the same counseling as anyone else with that learning disability. This counseling usually involves teaching new techniques and strategies for learning, as well as providing motivation and help with using these tips in daily life. Because people with triple X syndrome may be more susceptible to stress, it's important to make sure your daughter has a supportive environment as well. Psychological counseling may help, both by teaching you and your family useful methods of demonstrating love and encouragement, and by discouraging behaviors that you might not realize are negative. The chromosome change that causes triple X syndrome cannot be repaired, so the syndrome itself has no cure. However, given the treatable nature of most symptoms and how frequently no symptoms appear at all, it's quite possible to lead a full and normal life despite having this syndrome.

Coping and support

A number of groups can provide help and support for people with triple X syndrome and their families, such as Knowledge Support & Action, which offers information and advice on coping with the syndrome, as well as ways to meet and talk with others in similar situations. Other support groups for parents include the Madisons Foundation and Contact a Family. If learning disabilities appear, the National Center for Learning Disabilities is a good resource as well.