Triple X Syndrome, also known as XXX syndrome, triplo-X, 47, 47 XXX, Trisomy X, or XXX aneuploidy, is caused by an extra x- chromosome, which results in 47 chromosomes in each cell instead of the usual 46.
By its very nature, this syndrome can only affect women, not men. The cause is not known, however, there is some evidence that baby girls born to older mothers have increased chances to have it.
5 to 10 girls with the syndrome are born in the US every day.
Females usually have 2 X chromosomes in all cells — one X chromosome from each parent. In XXX syndrome, a female has three X chromosomes.
Despite the fact that this syndrome is a genetic disorder, it does not run in families. It is caused by a random malfunction which occurs during the formation of gametes (a haploid cell which fuses during fertilization) from germ cells.
This syndrome is not caused by anything the parents did not do or did. This ”glitch” can happen before conception in the reproductive cells of the father or the mother, or early in the embryo’s development.
The only known risk factor for 47 XXX is the mother’s age. According to research, women who are 35 or older when they become pregnant are at increased chance of having a daughter with 47 XXX.
Trisomy X occurs in approximately 1 in 1,000 newborn girls. Five to 10 girls with this syndrome are born in the US every day.
Based on this figure, there are about four million girls and women in the world with Trisomy X with more than 90 percent of them never to know that they have this extra chromosome.
But since many women and girls show no or very mild symptoms of XXX aneuploidy, some scientists estimate that the actual numbers are higher, especially in the least developed countries.
Some patients have no symptoms at all while others may have severe symptoms. However, the majority of patients have a third X chromosome in only some of their cells, resulting in very mild symptoms (or even none).
Symptoms may include:
- flat feet;
- being taller than average (particularly long legs);
- a smaller-than-average head;
- learning disabilities, like – difficulty with understanding and reading (dyslexia);
- delayed development of motor skills (like – sitting up and walking) as well as language and speech skills;
- little finger bends;
- emotional and behavioral problems;
- some sufferers with this condition developed abnormal kidneys;
- early or late puberty;
- epicanthal folds (skin of the upper eyelid which covers the inner corner of the eye);
- abdominal pains;
For most girls, fertility and sexual development are normal. However, premature ovarian failure has been reported in some women with this condition and may occur more frequently than in the general population.
In general, researchers note that most women with 47 XXX can become pregnant and deliver healthy babies and have normal sexual development.
Note – extremely rare cases of infants with 4 or even 5 X chromosomes have been found. It is acknowledged that the more X chromosomes the sufferer has, the higher the chances of physical abnormalities and intellectual disability.
The only treatment for 47 XXX is to have the same counseling with anyone else who has the same problem. The counseling commonly involves teaching new strategies and techniques for learning and help with using these tips in day-to-day activity.
Because this condition is believed to be caused by a spontaneous genetic mutation, there are no methods to prevent it.
Here is a list of famous people with Triple X syndrome:
Note – this syndrome is so rare that most pediatricians have never seen a child with this 47 XXX, therefore, there are very few celebrities with it and even fewer who come publically.
Patricia Ann Jacobs
It is a Scottish geneticist and is Honorary Professor of Human Genetics, Co-director of Research, Wessex Regional Genetics Laboratory.
She is the first woman diagnosed with this syndrome.
She is an Australian fashion actress and model. In 2005, she became the 1st model ever to appear on the cover of Teen Vogue magazine.
In 2008, Gemma Ward retired from modeling to focus on her budding acting career, nevertheless, she returned to the runway at Milan Fashion Week 2014. It is only rumored that she has Trisomy X.
References https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987225/ https://www.mayoclinic.org/diseases-conditions/triple-x-syndrome/diagnosis-treatment/drc-20350981 https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/triple-x-syndrome