Down syndrome

Down Syndrome

Down syndrome is caused by a chromosomal defect; There are 3 instead of 2 chromosomes. The mental development of the sick child is below average; In some cases, severe formative disorders also occur.

For the first time in 1866, John Langdon Haydn Down talked about the characteristics of some patients whose spiritual development was not completed in a paper he published. This view was called “mongolism” because the view of the patients reminded the Asian breeds. This old definition is no longer used, but the table is now more commonly known as Down syndrome.

The term & quot; syndrome & quot; is used when there is no real disease, and when certain special symptoms are present. There are many symptoms specific to Down syndrome; Some of them are rare, and others are less common.


The identification of the individual with Down’s syndrome is very easy; There are some important indications specific to this situation. These include flat nape and a small head, pulled eyes, a curb that covers the inner corner of the eye in the eyelid, shortness of arms and legs and shortness of the neck due to the tongue being large, short and thick hands and lack of spiritual development.

Some of the disorders that are less obvious than these and usually only the physician may notice include: Deformation in the earbud, light spots on the iris, cracks giving a special appearance to the tongue mucosa, short and curling of the serpentine, abnormal flexibility in the joints, A voice…

In addition, about half of the cases have heart atrophy (holes in the atria or ventricles); As well as stenosis and various defects in the digestive tract, hearing loss and decreased muscle tension. As mentioned before, not all of these statements need to be found; One or more of these occur in a fraction of the events.

However, in each case, intelligence is seen in different measures; Functions such as attention and memory are also inadequate, speech is not sufficiently developed and is not smooth. In most patients, the IQ is below 50.
These “less intelligent” children, most of whom are soft, gentle and caring, are quite sympathetic; Even short, sweet and sweet smile immediately reappear.

Parents of newborn babies fear that my doctor will not recognize this syndrome at birth. However, the indications described above allow Down syndrome to be identified in the first days.
Some of the symptoms specific to Down syndrome may occur in entirely normal individuals alone; Therefore, the diagnosis of Down’s syndrome should be made by a combination of several previously significant findings.

The causes have only been elucidated in the last 30 years, and it has been understood that there is a chromosomal defect at the base of Down syndrome. These individuals have 47 chromosomes instead of 46 in the gene structure. There are three of twenty-first chromosomes, which are expressed in terms of trisomies.

Those with hyperchromosomes have the above mentioned disorders as well as low intelligence level and inadequate social relations.

Research conducted in recent years has revealed that an excess chromosome linked to the 21st chromosome pair is linked to another chromosome pair (usually fifteenth) in some cases. This is the name of the displacement. There is no clinically significant difference between patients with trisomy 20 on chromosome 21 and patients with trisomy on another chromosome pair. The status of Down syndromes, which do not have chromosomal defects throughout the entire body cells, is generally better. In patients with a trisomy in a chromosome pair different from 21, chromosomal abnormality is even more rarely seen in all body cells and is defined by the term “mosaic appearance”.

So, do you need to know which of the chromosomal changes mentioned above is associated with Down’s syndrome? This is not a problem, as it does not change the route or the method to be followed in the treatment. However, it is important that the parents of the child with Down’s syndrome know the pattern of the child’s chromosomal disorder. If a child has a trisomie, then the likelihood of a child being brought to the world later on is the same as the other couples in the same age group; In contrast, if the mother or father is completely normal in genetics, the likelihood of a child with Down syndrome (25 percent) is higher because of a similar chromosomal change. For this reason, the chromosome structures of the mother and father should be examined in these cases.

Speaking of couples in the same age group is why the likelihood of birth of a child with Down’s syndrome increases as the mother’s age progresses. This possibility increases especially after age 40; When a woman with an advanced age gets pregnant, it is necessary to determine whether or not the fetus is chromosomal.
Cells are removed from the fluid surrounding the fetus by amniocentesis and some chromosome structure is detected by specific techniques.

This technique applied for abortion when a chromosomal abnormality is detected is useless for a couple against abortion because of their religious beliefs.
The age of the mother’s advance, the incidence of syndrome

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