47, XXX Female genetic trisomy in females

The two genetic abnormalities linked to the chromosomes that determine the best known sex are Turner Syndrome and Kilfener Syndrome, which are linked to sequences 47, XXY and 45, X. However, there are other numerically non-normal and less well-known genomes, but that can also be a huge scare for parents once they discover that their children or their future children suffer. In this case we will talk about what came to be called in the medical literature the “super female”, or better expressed, genetic trisomy 47, XXX or Triple X.

How does trisomy XXX occur?

One in every thousand born is Triple X. In fact, possibly the vast majority of carriers are unaware of their condition, since the symptoms are mild and do not occur in all cases. In addition, XXX women are fertile and their problem is not hereditary. It can produce some alterations but not very serious.

When the ovules or sperm are formed, it may happen that some of the chromosomes do not separate properly. If the copy failure occurs on the sex-linked chromosome, the X, and the egg receives two of them instead of one or the sperm carries a duplicated chromosome, the girl born will be a 47, XXX. What is the cause of the Triple X?

The causes are really unknown. It seems that in a larger percentage the additional chromosome comes from the mother and there is a small chance of being related to her age, but there is really no way to prevent this defect in copying. It is nobody's fault.

What exactly is trisomy X?

The girl will have three type X chromosomes instead of two In some cases mosaicism will occur and the girl will have a normal and an altered cell line. In these cases it is assumed that the alteration of copying has occurred in the early stages of embryonic development. This feature is not treatable and will remain with her all her life.

When, after an amniocentésis, this news is received, the parents may fear a lot for the future of the baby and others will decide not to proceed with the pregnancy. However, it is important to know the consequences of triple X well, since girls carrying this modification will have a normal and healthy life, and, in the case of difficulties, these are not impossible to overcome.

The vast majority of triple Xs go to perfectly integrated normal schools, study, get married, work, have children. It is important to keep this in mind if we receive a triple X diagnosis after amniocentésis or in childhood.

Triple X girls have no complications of newborns and they tend to grow quickly and be tall, with long legs. In general, their intelligence is relatively normal, but approximately half of them will have somewhat lower intelligence without being a delay, hearing or language disorders and some difficulties in the social relationship.

All this can be solved with an early detection and specialized support, although, as I said, there are many triple Xs that do not have any affectation and have a completely normal and functional life.

Most common alterations

As I said hardly any physical problems related to triple X, although a higher prevalence of some alterations that may surprise families if they are not prepared to face them as normal in these girls, without being specific to them.

They can complain of annoying abdominals, have problems in the placement of the teeth or their placement and have disagreement due to a great sensory sensitivity. Back problems, due to their height, can also occur with relative frequency, and, in some cases, epilepsy and urinary problems are noted.

Psychic aspects of the triple X

It is mentioned in the medical literature that girls with triple X usually have self-esteem issues and feel very bad for people with a strong or dominant character. Of course, adequate guidance will help them in these cases to prevent something that seems to be generally observed, that women with triple X have a certain propensity in greater proportion to suffer from psychiatric problems or depression.

There is no demonstration that this is necessarily due to triple X, so if we modify environmental factors and help improve their self-confidence since girls, the trend can possibly change.

What we can expect in a Triple X girl

Babies with triple X They are sociable and normal girls. They may have less weight and cranial circumference than the other girls, but always within normal range.

However, in many cases speech development may be slower, being expected not to say words until 18 months. If after two years they have not started talking, you have to think about going to a speech therapist and it is usually one of the reasons why the pediatrician can ask for evidence to discover this genetic alteration.

We must also be patients with sphincter control, being quite normal that they fail to leave the day diaper before four years and take even longer to leave the night. Since this is part of its special maturation, there will never be a need to force, scold, reward or comment on its progress.

In school they may run away from conflicts or group games. They can also present difficulties in learning to read, tell or write, so you will have to be attentive to give them specialized support, with which they can continue their studies normally. Of course you never have to make fun or get impatient with girls who learn more slowly or express themselves with difficulty, because that will only hurt them and reduce their self-esteem.

The results of the intelligence tests They are usually, on average 10 or 20 points below the average, which does not preclude the majority to finish their studies and have a fully functional and happy working and personal life. In addition to the C.I. There are many things that should be valued in life, willpower, empathy and personal effort will determine your destiny as well.

Approximately half of Triple X girls they will not present any special features and, the other half, they will need attention in the specific areas in which they manifest difficulties.

Conclusion

One in 1000 women is a carrier of genetic trisomy linked to the sex chromosome, that is, it is 47, XXX or Triple X. The majority of women with Triple X will have an adequate development and will not present serious problems, so we should not be scared before a diagnosis of this type but to know the possible difficulties that we must be prepared to face.

Video: What is Turner Syndrome? Animated Explanation Video (May 2024).