Everyone knows what Down syndromeBut when we say that this is a trisomy, some people know what it really is. This syndrome is actually, Well -known trisomyBut not only, because there are other people known as triosomy 18 Edwards SunthomOr Trisomi 13, as a result Bhata syndrome.
As explained, others are rarely known Genetist Encorn Killon“Most trisomers do not apply to life, and cause spontaneous abortion. The trisomes we can see at birth are 8,13 (Batav syndrome), 18 (Edwards syndrome), 21 (Town syndrome) and sex, X and Y.”
Even then, Killan insists on that Chromosomobions occur in relatively frequently in human natureBecause “they are in 3-4% of recognized pregnancies that are responsible for arbitrary abortion, 50-60% 0.7% of the newborn they found”.
But what are they? What do they have and why are the trisomes? Encorna Killon explains, “Nuclear human gene, with over 20,000 genes, is compiled 23 pairs of chromosomes (46 chromosomes in total). 22 of them (1 to 22) are the common for both sexes. Number 23 is similar to sex chromosomes, XX for women and XY for men. That is, the game of 23 chromosomes in each person has been derived from the mother (through the universe) and the other (sperm) of the father. ”
However, this is not always like that “because”There are genetic diseases that change the number or structure of chromosomesCalled chromosomopathy. The number has been replaced in the trisomes, there are 47 chromosomes instead of regular 46; That means the third copy of a chromosome instead of two normal copies ”, so the name Tri (three all) – Somia (chromosome).
We will talk about the trisomy 21 when this trisomy is in two chromosomes number 21, the trisomy 18, when the pair number 18 … and more.
How do trisomes happen and what impact they have
Although trisomers are due to chromosomal anomaly, ie in our genetic material, the truth is The majority is spontaneousAnd not inherited. This is what he knows as “Nova’s chromosomal contradictions”, often, as explained As the woman’s age increases, often in the embryo. In the lower percentage, this may be due to the relocation of a part of a chromosome in the gene -or when a mosaic -the same person has a combination of chromosomal normal and unusual cells.
Trisomy 8, 13 and 18 are very serious, intellectual disorders and more severe disabilities that greatly control their survival and quality of life
Depending on the type of torque chromosomes and anomaly, symptomatic and gravity can vary significantly. So, we have the case Down syndromeWith people who have a person, usually the quality of life and the higher the life span and the others like others Edwards SunthomWhich majority They die before returning a year. For the most part, as Killon points out, “Trysomy 8, 13 and 18 are the most serious, intellectual disorders and formal contradictions and the most serious disorders that greatly control their survival and quality of life.
Two more frequently compared to Edwards Syndrome (TRISOMEM 18) and Town Edwards Syndrome (TRISOMEM 21), many differences have already been appreciated, “The first is related to the most serious contradictions, the conditioning 95% of children in the first year of life. Town syndrome, in general, is less intense, and with current care of a 60 -year life, is prematurely aging, but there are more cases of degenerative diseases Alzheimer “Mature.
Even so, it may be considered that there are common manifestations like them ”Disorder Variable degree and in external and internal disorders ”.
Variable degree and external and internal disorders are common manifestations in all trisomes
Often trisomes and their manifestations
The most known among the trisomes is 21, Down syndromeIt affects One of the 800 people was born. However, these events are diminishing a lot because it can be detected during pregnancy and is estimated that there are now some 35,000 people in Spain With this condition.
Although the impact varies greatly from one person to another, people with town syndrome usually have intellectual disorders, rounded face, torn eyes, small nose, hypotonia, short condition and other heart, respiratory problems (sleep shortness), visual (cataract) and a course of celiac or diabetes. Thanks to the progress of medicine, its quality and durability has improved a lot, but they are too much Dreamsia is likely to be.
The second most frequently trisomy Edwards Sunthom Oh Trisami 18. In addition to the abnormalities of the face, or bone skull, the acute intellectual disability of the digestive tract, hypotonia, diet problems, growth delay, eye conditions and visceral disorders of the digestive tract, cardiovascular, tense, kidneys and urinary tract.
The less phenomenon, Was born in a year from 1/8,000 to 1/15,000Is there Trisomi 13 or Badav syndromeA serious trisomy, its birth – less – reduced life span (less than five months), especially for cardiovascular problems. This position is AcademiaHeart problems and abnormalities in the brain and spine. Also, defects in organ development and delaying psycholatha can occur.
Other less frequent freasomes because the majority of the spontaneous abortion Treasomy 22, Trisomy 9 and Trisomy 8.
Is it possible to ‘cure’ a triangle?
Today, no. By all that can be treated for each manifestation A wide range of attitudes Intended Improve the quality of life In victims. Even if Encorna Killon explains how it can be treated in the future, it is not rejected. In fact, many investigations are in progress, ie one has been made Comes from public and Japan a few weeks ago“Current research is very intense based on the potential treatment for genetic diseases. Recently, a group of Japanese researchers have published a study in connection with triosis, in which the additional copy of the chromosome 21 has been eliminated, the characteristic of the town syndrome, by the CRISPR tools of the genetic version in the culture.”
Although this research is Is still far from its use in humansUndoubtedly, as Killon recognizes, “Open the door to the future for possible treatment Different to trisomes, in which now only a symptom treatment is used. ”
