What Is Triple X Syndrome? What Causes Triple X Syndrome?

Triple X syndrome, also known as Trisomy X, 47,XXX aneuploidy, and Triplo-X, XXX Syndrome is a chromosomal abnormality that affects approximately 1 in every 1,000 females. A healthy female has two X chromosomes, one from her father and one from her mother. A female with triple-X syndrome has three X chromosomes.
According to the NIH (National Institutes of Health), USA, 5 to 10 girls with triple X syndrome are born in the USA each day.
A female with triple-X syndrome does not inherit it from her parents. The syndrome generally results from a mistake in the formation of the father's sperm cell or the mother's egg. In some cases triple-X syndrome may be the result of something that went wrong in the development of the embryo.
A girl with triple X syndrome may either have no symptoms, just mild ones, or more severe ones with developmental delays. Developmental delays may include learning disabilities, delayed development of speech and language skills, as well as motor skills. There may be behavioral and emotional difficulties. Approximately 10% of affected females have seizures or kidney abnormalities. Among those who do have symptoms, they will vary widely from person-to-person.
Triple X syndrome treatment varies and depends on which symptoms are present, and how severe they are.
Unlike the majority of other chromosomal conditions, there is usually no clear visual difference between a female with triple X syndrome and other females. Some females with triple X syndrome may be taller than average. Most individuals with the syndrome have normal sexual development and can conceive children. Infertility is possible in some cases, but it is rare.
Most medical professionals do not regard the condition a disability.
According to Medilexicon's medical dictionary:


Triple X Syndrome is "trisomy of the X chromosome; original observations (made in mental institutions) were seriously biased and the phenotypic changes spurious. Intelligence may be at the lower range of normal, stature is usually tall, there may be speech and behavioral problems. The outstanding feature of the syndrome is the occurrence of twin Barr bodies in a typical cell."

What are the signs and symptoms of triple X syndrome?
A symptom is something the patient senses and describes, while a sign is something other people, such as the doctor notice. For example, drowsiness may be a symptom while dilated pupils may be a sign.
In all female cells, only one X chromosome is active at any time. Consequently, triple X syndrome generally does not cause unusual physical features or medical problems. In other words, in the majority of cases there are no signs or symptoms. If symptoms do occur, they may include:

  • If physical features are present they will be very mild:
    • Tall stature
    • Microcephaly (small head)
    • Epicanthal folds - a vertical fold of skin that comes down across the inner angle of the eye.
    • Increased width between the eyes

  • Delayed language skill development
  • Delayed motor skill development, resulting in poor coordination, awkwardness, and/or clumsiness.
  • In very rare cases, infertility
  • Some may have menstrual irregularities
  • Some may experience an early onset of menstruation

If signs and symptoms are present, they will vary a lot between individuals.
What are the causes of triple X syndrome?
What are genes, chromosomes and DNA?
Anything that lives has genes. Genes are a set of instructions that decide what the organism is like, how it survives, and how it behaves in its environment. The genes lie in long strands of DNA (deoxyribonucleic acid) called chromosomes. Humans have 23 pairs of chromosomes - or a total of 46. A donkey has 31 pairs of chromosomes, a hedgehog has 44, and a fruit fly has just 4. An enormous number of genes lie in each chromosome strand. Scientists say that a chromosome is a single piece of DNA which has many genes, regulatory elements and other nucleotide sequences (sequences of the letters ACGT).
A chromosome consists of DNA and has proteins attached to it. These chromosomes are located in your body's cells, which then contain this important genetic information held in the long strands of DNA.
Your genes decide virtually everything about you. Your genes decide whether you are tall or not, the color of your hair, the color of your skin, whether you are more likely to develop certain diseases, whether you are good at sports, how you respond to environmental triggers, what you look like inside and out, and what sex you are.
Chromosomes that determine our sex
One of the 23 chromosome pairs that humans have determine our sex. We receive:
  • One sex chromosome from our mother, whose chromosome pair is XX. Females have an XX pair. A mother can only pass on an X chromosome.
  • One sex chromosome from our father, whose chromosome pair is XY. Males have an XY pair. A father can pass on either an X or a Y chromosome.

If an offspring receives an X chromosome from the father she will be female - because the mother will pass on an X chromosome, giving the offspring an XX chromosome pair; making her female. If the father passes on a Y chromosome, the offspring will have an XY chromosome pair, making him a male.
Individuals with triple X syndrome have an extra X chromosome, on top of the XX pair - in other words, they are females (XX) with an extra X chromosome (XXX).
Experts say this occurs because either:
  • The mother's egg was not formed properly (nondisjunction)
  • The father's sperm was not formed properly (nondisjunction)
  • Something went wrong during the development of the embryo (mosaic form of triple X syndrome)

Triple X syndrome is not an inherited condition.
The presence or severity of symptoms depends partly on how many body cells have the extra X chromosome. If the syndrome is caused by a badly formed egg or sperm every cell in the body has that extra chromosome. In the mosaic form of triple X syndrome only a number of body cells have the extra chromosome. Most cases of triple X syndrome are caused by a malformed egg or sperm.
Triple X syndrome is sometimes called 47, XXX syndrome because the extra chromosome gives that human 47 chromosomes (instead of the usual 46).
Diagnosing triple X syndrome
Triple X syndrome is diagnosed before the baby is born, through CVS (chorionic villus sampling) or amniocentesis, and a blood test after she is born.
  • CVS (chorionic villus sampling) - tissue is taken from the villi (vascular fingers) of part of the placenta (chorion) and examined. It is usually done between the 8th and 10th week of pregnancy, usually to diagnose severe abnormalities afflicting the fetus (unrelated to triple X syndrome).
  • Amniocentesis - also known as an amnio. Done during pregnancy in which some amniotic fluid is collected and diagnosed for a genetic or some other condition. The fetus/embryo floats in amniotic fluid.
  • Blood test - a chromosome analysis is done if the doctor notices unusual physical features of delays in development.

All three tests can look at the person's Karotype (collection of chromosomes).
There is no routine screening for triple X syndrome. If an embryo/fetus is found to have the syndrome, it is usually after screening for something else.
What are the treatment options for triple X syndrome?
It is not possible to remove the extra X chromosome. Treatment will depend on the needs of the girl. The patient may have been seen by physical, developmental, occupational or speech therapists if developmental or speech problems have occurred. If there are social problems she may have also been seen by a pediatric psychologist.
Treatment for developmental or psychological symptoms will be the same as for any child with such problems. If she has a learning disability she should receive the same counseling and support as anybody else with that type of learning disability.
A supportive environment is crucial, especially for girls with triple X syndrome who may be more susceptible to stress.
A girl with triple X syndrome who receives proper help and support can lead a full and normal life.
What are the possible complications of triple X syndrome?
If the girl has developmental delays, motor skill delays and difficulties, and does not get proper and prompt help and support, she may suffer from undue stress and anxiety which may eventually lead to psychological problems and social isolation.
The right help and support is extremely helpful for a girl with triple X syndrome who has symptoms.
Written by Christian Nordqvist
References:
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Triple X-trisomy X-super FemaleHi. I am 28. With triple x. Early years in school are difficult, with extra help from care givers and teachers who try to understand us, it really helps. Always lift their spirits. We're good at making friends, even if shy at first. We shut down after being called names or made fun of. We are more likely to grow into having mental and or emotional problems in adulthood, if not attended to in early stages. Due to not understanding oneself, allowing bad circumstances to happen later in life, putting oneself down, because we've heard it so many times by people who don't understand. Its not all bad. We are loving caring sweet ladies. Always creative and problem solving individuals. Nurturing. Great with children all through life. Great with animals and nature.

Anemia In XXX Syndrome, And Slow Weight GainMy triple x daughter is 18 months old. A few months ago she was flown to the hospital with very severe anemia, needing red blood cell and platelet transfusions. Is anemia a symptom in some triple x syndrome females? I would like to correspond with anyone with personal experience or knowledge about triple x and anemia or slow weight gain. She grows very slowly, needing a ton of calories to gain weight.
Naureen posted the following message and I would like to get in contact with her: Query about anemia in XXX syndrome
posted by Naureen on 03 Jun 2011 at 9:54 pm I have a child with this syndrome who requires repeated blood transfusions. I want to know the cause of anemia in this condition.

I made it through life soon to be 40 - Triple X syndromeI was born in 1973 with super female syndrome which is known as 47 XXX I was adopted cause they say my parents couldnt deal with my condition, Iam tall 6/1 never had a period and could tell from a young age I was different. I attended special ed classes and special speech classes. Now at 39 I still get carded everyone says I look to be 20 which is great. And dont abort your child just love it and cherish it wish I could have a child.

The preferred term.The preferred term, is trisomy x not "triple x syndrome" it's not a syndrome, nor is it a disease, condition or disability. It just means we're awesome and not that different.

The orgasm problems in Triple X casesDear all,
I got married with a girl and after one year she had told me that she is triple X. She has some orgasm problems (very late) and no sexual sense. Is it because of triple x or may be there is other reasons?
Thanks

20 year old triple XXX daughter .My beautiful daughter had the triple x syndrome. She was slow at walking and talking.. Needed extra help in explaining her school work ,once she got it into her mind all was well ..She went on to Pass her GCSE's with c grades.
She is now a qualified therapist. Passed her driving test on the second attempt.
I am so very ,very proud of her , like all teenagers she spoke out , always sorry afterwards. Very caring to her neices and nephews. I really don't know why i worried so much.
The only outward sign of her syndrome is her tallness ... 6ft 1", but her daddy was tall. My daughter was also brought up in a one parent family due to her daddy dying young. So please think twice this is not the end of the world , just a little harder ......

She's worth it... triple xIf you have a xxx girl, don't panic. Just give her lots of love and support with a dose of good humor. I discovered I was xxx after having a number of miscarriages. None of my children have it since it's not inherited. I had to work harder and study harder than most and I often joked that I was part alien (before I knew why I felt a bit different), but I went on to earn a PhD and a life that is nothing less than exceptional.

Triple xIm 15% triple x , as young i was pretty dificult child with bad behaviour.But i think all teens does.I have finished the school with the silver medal , and have finished university very good.And in most companies im the smarter one , bcoz of alot of reading and interesting in everything and travelling.But early school was a bit dificult for me , but then i picked up evrything so quick, thanx to my mum , she was styding with me hrs and tried to explain everything i was interesting in.It will cause u a bit work and patience , dont worry everything will be fine

My baby girl has triple x and is being a little pickle at gaining weight. Is this part of her extra special x? Has anyone else experienced this and would offer me some advice please?x

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