Why do some people have 47 chromosomes. An extra chromosome in humans. Chromosomal abnormalities. How to raise a child with a chromosome disorder

22.01.2022 Sport

The human body is a complex multifaceted system that functions at various levels. In order for organs and cells to work in the correct mode, certain substances must participate in specific biochemical processes. This requires a solid foundation, that is, the correct transmission of the genetic code. It is the laid hereditary material that controls the development of the embryo.

However, changes sometimes occur in hereditary information that appear in large associations or concern individual genes. Such errors are called gene mutations. In some cases, this problem refers to the structural units of the cell, that is, to whole chromosomes. Accordingly, in this case, the error is called a chromosome mutation.

Every human cell normally contains the same number of chromosomes. They share the same genes. The complete set is 23 pairs of chromosomes, but in germ cells they are 2 times less. This is because during fertilization, the fusion of sperm and egg must represent a complete combination of all the necessary genes. Their distribution does not occur randomly, but in a strictly defined order, and such a linear sequence is absolutely the same for all people.

After 3 years, the French scientist J. Lejeune found that mental disorders in people and resistance to infections are directly related to the extra 21 chromosome. She is one of the smallest, but her genes are concentrated in her. An extra chromosome was observed in 1 out of 1000 newborns. This chromosomal disease is by far the most studied and is called Down syndrome.

In the same 1959, it was studied and proved that the presence of an extra X chromosome in men leads to Klinefelter's disease, in which a person suffers from mental retardation and infertility.

However, despite the fact that chromosomal abnormalities have been observed and studied for a long time, even modern medicine is not able to treat genetic diseases. But the methods for diagnosing such mutations have been rather modernized.

Causes of an extra chromosome

The anomaly is the only reason for the appearance of 47 chromosomes instead of the prescribed 46. Medical experts have proven that the main reason for the appearance of an extra chromosome is the age of the expectant mother. The older the pregnant woman, the greater the likelihood of nondisjunction of chromosomes. For this reason alone, women are advised to give birth before the age of 35. If you become pregnant after this age, you should be examined.

The factors that contribute to the appearance of an extra chromosome include the level of anomaly, which has increased in the whole world, the degree of environmental pollution, and much more.

There is an opinion that an extra chromosome occurs if there were similar cases in the family. This is just a myth: studies have shown that parents whose children suffer from a chromosomal disease have a perfectly healthy karyotype.

Diagnosis of the appearance of a child with a chromosomal abnormality

Recognition of abnormal number of chromosomes, the so-called screening for aneuploidy, reveals the lack or excess of chromosomes in the embryo. Pregnant women over 35 years of age are advised to undergo a procedure for obtaining a sample of amniotic fluid. If a violation of the karyotype is detected, then the expectant mother will need to terminate the pregnancy, since the born child will suffer from a serious illness all her life in the absence of effective methods of treatment.

The violation of chromosomes is mainly of maternal origin, therefore, it is necessary to analyze not only the cells of the embryo, but also the substances that are formed during maturation. This procedure is called the diagnosis of genetic disorders by polar bodies.

Down syndrome

The scientist who first described Mongolism is Down. An extra chromosome, the disease of genes in the presence of which necessarily develops, has been widely studied. Mongolism causes trisomy on chromosome 21. That is, in a sick person, instead of the prescribed 46, 47 chromosomes are obtained. The main symptom is developmental delay.

Children who have an extra chromosome experience serious difficulties in mastering the material in a school institution, so they need an alternative teaching method. In addition to the mental, there is also a deviation in physical development, namely: slanting eyes, a flat face, wide lips, a flat tongue, shortened or widened limbs and feet, a large accumulation of skin in the neck. Life expectancy reaches an average of 50 years.

Patau Syndrome

Trisomy also includes Patau syndrome, in which there are 3 copies of chromosome 13. A distinctive feature is a violation of the activity of the central nervous system or its underdevelopment. Patients have multiple malformations, including those of the heart. More than 90% of people with Patau syndrome die in the first year of life.

Edwards syndrome

This anomaly, like the previous ones, refers to trisomy. In this case, we are talking about chromosome 18. characterized by various disorders. Basically, patients have bone deformity, an altered shape of the skull, problems with the respiratory system and the cardiovascular system. Life expectancy is usually around 3 months, but some babies live up to a year.

Endocrine diseases with chromosomal abnormalities

In addition to the listed syndromes of chromosomal abnormality, there are others in which a numerical and structural anomaly is also observed. These diseases include the following:

  1. Triploidy is a rather rare disorder of chromosomes, in which their modal number is 69. Pregnancy usually ends in an early miscarriage, but if the child survives for no more than 5 months, numerous birth defects are observed.
  2. Wolf-Hirschhorn syndrome is also one of the rarest chromosomal anomalies that develops due to the deletion of the distal end of the short arm of the chromosome. The critical region for this disorder is 16.3 on chromosome 4p. Characteristic signs - developmental problems, growth retardation, seizures and typical facial features
  3. Prader-Willi syndrome - the disease is very rare. With such an abnormality of chromosomes, 7 genes or some of their parts on the 15th paternal chromosome do not function or are completely removed. Signs: scoliosis, strabismus, delayed physical and intellectual development, fatigue.

How to raise a child with a chromosomal disease?

Raising a child with congenital chromosomal diseases is not easy. In order to make your life easier, you need to follow some rules. First, you should immediately overcome despair and fear. Secondly, there is no need to waste time looking for the culprit, he simply does not exist. Thirdly, it is important to decide what kind of help the child and family need, and then turn to specialists for medical and psychological and pedagogical help.

In the first year of life, diagnosis is extremely important, since motor function develops during this period. With the help of professionals, the child will quickly acquire motor skills. It is necessary to objectively examine the baby for pathology of vision and hearing. Also, the child should be observed by a pediatrician, psychoneurologist and endocrinologist.

The carrier of the extra chromosome is usually friendly, which makes it easier to raise him, and he also tries to earn the approval of an adult to the best of his ability. The level of development of a special baby will depend on how hard they teach him basic skills. Sick children, although lagging behind the rest, require a lot of attention. It is always necessary to encourage the independence of the child. You should instill self-service skills by your own example, and then the result will not be long in coming.

Children with chromosomal diseases are endowed with special talents that need to be developed. It could be music or painting. It is important to develop the baby's speech, play active and motor skills games, read, and also accustom to the regime and accuracy. If you show all your tenderness, care, attentiveness and affection to the child, he will answer the same.

Can it be cured?

To date, it is impossible to cure chromosomal diseases; each proposed method is experimental, and their clinical effectiveness has not been proven. Systematic medical and pedagogical assistance helps to achieve success in development, socialization and the acquisition of skills.

A sick child should be monitored by specialists all the time, since medicine has reached the level at which it is able to provide the necessary equipment and various types of therapy. Teachers will apply modern approaches in teaching and rehabilitation of the child.

Down syndrome is a genetic anomaly resulting from the bifurcation of one of the 21 chromosomes, as a result of which the human chromosome set includes not 46, but 47 chromosomes, which causes further clinical signs.

The phenomenon was first described by the English physician John Down (thanks to whom the syndrome got its name) in 1866 as mental retardation with characteristic external signs, but only in 1959 did the French geneticist Jerome Lejeune determine the relationship between an excess number of chromosomes and the symptoms of the syndrome.

Today, despite the high development of medical technology, Down syndrome is a very common and not fully understood phenomenon, which gives rise to many different myths, sometimes contradicting each other. However, it is known that:

  1. This anomaly is equally common in both sexes, different ethnic groups and nationalities.
  2. The development of the syndrome does not depend on the lifestyle of the parents and has a genetic “origin”, when anomalies occur either at the stage of formation of an egg or sperm (it is not excluded, but it is practically unlikely that they can be affected by harmful environmental factors), or during the fusion of sex cells after fertilization.
  3. The syndrome occurs during pathological processes in the genes, when another 1 chromosome joins the 21st pair (therefore, there are 47 of them instead of 46). Most often this is due to the fact that during cell division, the chromosomes do not diverge. In addition, one of the main reasons may be the heredity of the mutation of the 21st chromosome - when this chromosome merges with another. This mutation is called trisomy and occurs in about one in 800 newborns, and 88% of cases are due to the "non-disjunction" of female gametes (reproductive cells).
  4. Down syndrome is a common pathology that has 3 forms (hereditary disease, mutation of the 21st chromosome, mosaic disease) and 4 degrees of the disease:
  • weak - patients practically do not differ from ordinary children, quite often they successfully adapt in society and can occupy a very prestigious place in society;
  • average;
  • heavy;
  • deep - children cannot lead the generally accepted way of life of society, and this greatly complicates the life of parents. Nowadays, there is a special prenatal diagnosis that allows you to find out in time about the likelihood of developing a pathology. If you suspect Down's syndrome, parents face the question: leave the child or get rid of the pregnancy? At the birth of a baby, others will arise: how to raise a child, how to provide him with a normal life and at the same time live fully on his own?

5. Down syndrome is not recommended to be called a disease, since people living with this syndrome, although they have pathological changes that prevent them from realizing their full potential, nevertheless, with the right approach of specialists from an early age, most are able to adapt quite well in society.

Causes of the development of Down syndrome

As we have already said, Down syndrome occurs due to an anomaly in cell division, when another third chromosome is glued to the 21st pair of chromosomes. In other words, it is a congenital pathology that cannot be obtained in the course of life. The causes of chromosomal disorders are very difficult to establish.

This happens as a result of 3 forms of pathology that have an almost identical clinical picture of this syndrome:

  1. Trisomy- a subspecies of the syndrome, characterized by the formation of three chromosomes in 21 pairs. This phenomenon has been little studied, but there is a version that the age of the mother plays a significant role here: the older the woman, the more likely it is to give birth to a baby with Down syndrome. This is due to the age of the egg, when the birth of a gamete is possible not with 23, but with 24 chromosomes. In this case, when a cell is fertilized by a male gamete with 23 chromosomes, one remains superfluous, and a mutation occurs: the chromosome sticks (attaches) to 21 pairs. As a result, all cells of the fetus will contain 47 chromosomes.
  2. mosaicism- a rare phenomenon (make up only 1-2% of all cases), in which not all cells of the fetus will contain an abnormal number of chromosomes, therefore only certain organs and tissues are affected by the phenomenon of the syndrome (if copying falls on the genes responsible for mental and motor development, then the development of the syndrome in the fetus cannot be avoided). This is due to the "non-disjunction" of the chromosome series not at the stage of formation of parent germ cells, but at the early stages of development of the embryo. This form of the syndrome - with a smoothed clinical picture - is mild, but during perinatal studies it is extremely difficult to diagnose.
  3. Translocation- occurs during cell fusion and at the same time, a shift of a part of one chromosome in the 21st pair to the side of the other chromosome is noted.

However, there are other reasons for the development of Down syndrome:

  1. The age of the parents is too young a girl, or, conversely, a woman over 40 years old, and for men - over 45 years old (the risk of having a child with the syndrome is 1:30). Due to age, the maturation and division of chromosomes “slow down”, and a defective cell is obtained. Being involved in fertilization, it will subsequently become the cause of the development of Down syndrome.
  2. Closely related marriage (bond).
  3. Folic acid deficiency during pregnancy.
  4. The likelihood of having a child with Down syndrome increases if the disease occurs in the family of the parents.

Down Syndrome Symptoms

The disease is usually called a syndrome, since it is characterized by a number of symptoms and signs, as well as characteristic manifestations:

  • narrow and slanting (Mongoloid) eyes (previously the pathology was called "Mongolism");
  • the presence of an epicanthus (a special fold at the inner corner of the eye, which covers the lacrimal tubercle and does not pass to the upper eyelid);
  • strabismus and noticeable pigmentation of the iris (Brushfield spots), cataracts are possible;
  • flat profile - flat and wide bridge of the nose and short nose, occipital region;
  • shortened (small) skull;
  • shortened neck - the newborn has a fold of skin in this area;
  • underdeveloped auricles;
  • hypotension (weak tone) of the muscles;
  • an arched palate, an abnormally large tongue (macroglossia) and an open mouth due to reduced muscle tone;
  • wide hands with short fingers due to underdevelopment of the middle phalanges - there is a curvature in the little finger,
  • on the palms there is a single transverse fold;
  • short limbs;
  • there is a deformation (keeled or funnel-shaped) of the chest;
  • often (about 40%) children with the syndrome are born with congenital heart disease (defective processes in the septum between the ventricle), which is one of the main causes of their mortality;
  • pathological processes of the gastrointestinal tract (for example, duodenal artesia);
  • the child may be born with leukemia;
  • the child lags behind in growth, mental development;
  • hoarse voice;
  • most often, patients are infertile, but when offspring appear, children have the same pathology.

However, it is worth noting that people with Down syndrome rarely have malignant tumors, and this is due to the protection of the extra gene.

At the birth of twins, the syndrome is observed in both children.

The severity of the above symptoms in all patients is different.

Diagnosis of Down syndrome

The modern level of medicine and technology in case of suspected Down syndrome allows for timely diagnosis and, if DNA abnormalities are detected, get rid of the current pregnancy.

For diagnosis, several methods are used:

1. Ultrasound - carried out in the 2nd or 3rd trimester of pregnancy, when a fetus is scanned to detect pathology. This method makes it possible to "see" the signs of Down syndrome with the help of some "measurements":

  • thickening of the collar space (with a developing syndrome, it will be more than 3 mm);
  • absence of the nasal bone;
  • small sizes of the frontal lobe and cerebellum (hypoplasia);
  • shortened femurs and ulnas, etc.

However, ultrasound reveals only one of the forms of the syndrome - trisomy. The remaining subspecies of pathology cannot be detected by this diagnostic method.

2. Biochemical analysis of the blood of a pregnant woman in the 1st trimester (to establish the karyotype - the gene content of the mother's blood), during which the level of the hormone synthesized by the fetus (hCG) and PAPP-A is taken into account. In the 2nd trimester, the analysis is carried out again.

3. A biochemical test (by the level of free chorionic hormone) makes it possible to diagnose Down syndrome as early as the 12th week of pregnancy, and at the 16th week, a test for estriol and α-faetoprotein is carried out - indicators of the presence of Down syndrome. When confirming the data, you must immediately contact a geneticist who prescribes:

  • choriobiopsy - a study of the tissues of the fetal membrane;
  • amniocetesis (analysis of amniotic fluid) - the study of the cellular composition of amniotic fluid, as well as baby tissues, which will provide information about the cellular set of chromosomes of the child;
  • cordocentesis - analysis of the umbilical cord blood of the fetus.

These methods are highly accurate, but, unfortunately, unsafe for a woman - they can lead to complications, up to miscarriage, and therefore are carried out only in extreme cases (if the pregnant woman is over 35 years old, if there is a suspicion of a syndrome in ultrasound studies, or there is a disease in family).

However, science does not stand still, and London clinics have already developed a special test that allows you to accurately find out about all genetic diseases.

Down syndrome treatment

Down syndrome is an incurable disease, since no one can “correct” DNA, but it is possible to improve the general condition of the patient and improve his quality of life.

Treatment of congenital pathologies is carried out by specialists - a pediatrician, a cardiologist, a gastroenterologist, an ophthalmologist and others. Their efforts are aimed at improving the health of the patient, and despite the fact that there is no specific treatment for the syndrome, it is still impossible to avoid taking medications. Among them:

  • Piracetam, Aminolone, Cerebrolysin - to normalize blood circulation in the brain;
  • neurostimulators;
  • vitamin complexes - to improve overall health.

However, quite often, with age, children with Down syndrome show a number of complications associated with physical health: diseases of the heart and digestive organs, disorders of the endocrine and immune systems, problems with hearing, sleep, vision, and cases of respiratory arrest are not uncommon. In addition, almost a quarter of patients after 40 years of age (and sometimes even earlier) have obesity, epilepsy, Alzheimer's disease and leukemia. At the same time, it is difficult to predict how the disease will develop, because everything depends on the individual characteristics of the organism, the degree of the disease and the activities with the child. Few people with Down syndrome live to be 50 years old.

At the same time, a speech therapist, a neuropathologist and other specialists deal with the elimination of significant disorders of verbal and motor functions, intellectual retardation; self-care skills training. Based on this, children with Down syndrome are recommended to be sent to specialized educational institutions.

To correct mental retardation, specially designed training programs are used, and it is worth noting that mental and cognitive symptoms in each individual case are expressed differently.

Depending on the degree of damage and the treatment (training with the child), a significant reduction in developmental delay can be achieved. With regular activities with the baby, he is able to learn to walk, talk, write and serve himself. Children with Down syndrome can attend public schools, go to college, get married, and in some cases even have children of their own.

Among people with Down syndrome there are a lot of artists, writers, artists. There is even an opinion that the “children of the sun” are not just a genetic disease, but a separate “species” of people who not only differ in the presence of an “extra” chromosome, but live according to their own moral laws and have their own principles.

People with Down syndrome are often referred to as "children of the sun" or "sunshine" because they are constantly smiling, gentle, kind, and radiate warmth. In 2006, the International Down Syndrome Day was established, which is celebrated around the world on March 21.

Special for - Kira Danet

Every year about twenty children with Down syndrome are born in Novosibirsk. Statistics show: for seven hundred children - one "down"
Almost ninety percent of these newborns are "refuseniks." Parents, having heard the diagnosis, renounce the child, leaving him in the care of the state.

Down syndrome is one of the most terrible diagnoses. This disease has been known to doctors since 1866. The English doctor Langdon Down drew attention to the girl with characteristic facial features and developmental delays. After that, doctors began to identify children very similar to each other. They have a peculiar cut of the eyes, specific forms of the bridge of the nose, auricles, an enlarged tongue, often falling out of the mouth, and a developmental delay. In the twentieth century, geneticists determined that such children have quantitative changes in chromosomes. A normal person has forty-six, and a down has one more. Where does the extra chromosome come from, throwing a tiny man to the sidelines of life, while only God knows. It is almost impossible to predict the birth of a down. At the fourth month of pregnancy, you can take a sample of amniotic fluid, check the blood, but there is no one hundred percent guarantee.

No one keeps official statistics of downs living in Novosibirsk and the Novosibirsk region. This year, we managed to count the "downs" in urban families, those who were not abandoned by their parents. There were one hundred and sixty-seven of them. But mostly they live in boarding schools, and, according to experts, the number of patients with Down syndrome in Russia is approaching the population of a small town.

In developed countries, such kids, at least theoretically, have equal rights with their healthy peers, they also receive education. In Russia they are outcasts. A year ago, a public organization "Down Syndrome" was created in Novosibirsk. The initiator was the mother of the down child Tatyana Esipova. The purpose of the "DS" - to ensure that children with disabilities have the right to a full human life. Is it possible?

Sonia Makagon and her drawings

Neither on my part, nor on the part of my husband, there have ever been any pathologies, - says Tatyana Pavlovna, - at the sixteenth week I passed the tests. The doctors said that everything is in order, the child is healthy. I gave birth four weeks later. When they told me that I had a down, I did not believe it. Then I became scared, it seemed that the whole world turned upside down. My husband offered me a choice: "Either I, or he." I couldn't give up my baby. I took Pavlik - that's my son's name - and began to study literature. There was nothing to build illusions on. Down syndrome is incurable. However, it is known that if you constantly deal with a child, teach him to speak, conduct a course of treatment, you can adapt him to the world around him. He will not become a full-fledged person, but he will be able to live in our society. For four years I sought the creation of our society, got acquainted with the parents of the "downyat". Now we have united in one family and are trying to help sick children. Over the past year, we have managed to prove that although the downs cannot master the technical sciences, they can do the humanities. Three months ago at the city competition "Kaleidoscope" Sonya Makagon's drawings were highly appreciated by the jury. In the art of drawing, she far surpassed many full-fledged peers.

The fate of Sonya's mother is not much different from the fate of Tatyana Esikova. She also brings up her daughter alone - her husband could not stand it and left the family, leaving not only the sick Sonya, but also the healthy four-year-old Sasha.

A year ago Sonya was taught to draw. The pencil slipped from the weak children's hands. Dots, dashes, circles. The girl did not cry, she tried, and after four months she began to draw smooth lines on a paper sheet. Then it turned out a dog, a house, a rooster. Now Sonya attends a kindergarten for ordinary children. True, as her mother says, she is unlikely to be taken to school. Teachers don't want to see downs at their desks. Sonina's mother does not give up, just as the little girl does not lose heart.

One of the most pressing problems today is to arrange a "down" in a regular school, - Esikova shares, sore, .- School directors categorically do not want to see downs at their desks. As a rule, they answer the same thing: "Down cannot master the school curriculum, send them to auxiliary classes." They do not understand that if a sick child is constantly among similar children, progress in learning is equal to zero. Down must observe the behavior of healthy children, learn from them. The experience of recent years proves that a child diagnosed with an extra chromosome can be taught a lot: to speak, write, navigate the city.

People with Down syndrome develop in the same way as everyone else, only much more slowly. Gradually, they increase the level of useful skills and behavior. Thus, it allows them to eventually even enter into a marital relationship. However, one should not conclude from this that all such patients must necessarily lead a married life. You just need to keep in mind that, having reached a certain age, downs can be socially adapted to a sufficient extent.

Nearly ninety percent of downs are infertile. Moreover, very few of them enter into intimacy at all, says Tatiana Esikova. - However, it is impossible to exclude that such a married couple may have a child. Having children for such people is probably still not worth it, but living together has its advantages. First of all, everyone will have a good friend with whom they can fully share their experiences and difficulties of learning social skills. Living together is also a huge boost to vocabulary development as well as the interests of both spouses with Down syndrome. Of great importance is the mutual sympathy that they experience for each other. It balances their personality, gives them independence and strength in order to cope with difficulties ... A few months ago we published a brochure in which it is quite fully described how to raise a "down child". In general, the most important thing is patience. Moreover, we hope that science will still invent a medicine, and our children will be able to become healthy.

So far, science has not invented a "killer" of an extra chromosome, but if downs are born, then our society needs it. After all, the downs are very happy people. They cannot do evil because they do not understand what it is. Simple-hearted and naive, they remain so until the end of their lives. They live in their own, only they understand the world, where they sometimes let us.

Among the Novosibirsk "downyats" there are even those who can write poetry.

Here is another poem written by a girl with Down syndrome

"Dad had male friends.
Ugh, and he was left alone (Dick).
affectionate, big
Our protector and friend.
He was dad's, but he became ours.
Beloved, good and gentle.
The dog has a soul
What about a person? Here's the question."

These are verses from the diary of a girl with Down syndrome. Her father died. They stayed with their mother and grandmother. Dick is their dog. Mom didn't want us to give the girl's last name.

Marina KORNILOVA
Evening Novosibirsk

    Diagram of the structure of the chromosome in the late prophase-metaphase of mitosis. 1 chromatid; 2 centromeres; 3 short arm; 4 long arm ... Wikipedia

    I Medicine Medicine is a system of scientific knowledge and practice aimed at strengthening and maintaining health, prolonging people's lives, and preventing and treating human diseases. To accomplish these tasks, M. studies the structure and ... ... Medical Encyclopedia

    The branch of botany concerned with the natural classification of plants. Instances with many similar features are combined into groups called species. Tiger lilies are one species, white lilies are another, and so on. Views similar to each other in turn ... ... Collier Encyclopedia

    ex vivo genetic therapy- * gene therapy ex vivo * gene therapy ex vivo gene therapy based on the isolation of patient's target cells, their genetic modification under cultivation conditions and autologous transplantation. Genetic therapy using germinal ... ... Genetics. encyclopedic Dictionary

    Animals, plants and microorganisms are the most common objects of genetic research.1 Acetabularia acetabularia. A genus of unicellular green algae of the siphon class, characterized by a giant (up to 2 mm in diameter) nucleus precisely ... ... Molecular biology and genetics. Dictionary.

    Polymer- (Polymer) Polymer Definition, Polymerization Types, Synthetic Polymers Polymer Definition Information, Polymerization Types, Synthetic Polymers Contents Contents Definition Historical Background Polymerization Science Types… … Encyclopedia of the investor

    A special qualitative state of the world is perhaps a necessary step in the development of the Universe. The naturally scientific approach to the essence of life is focused on the problem of its origin, its material carriers, on the difference between living and nonliving things, on evolution ... ... Philosophical Encyclopedia

Every year about twenty children with Down syndrome are born in Novosibirsk. Statistics show: for seven hundred children - one "down"
Almost ninety percent of these newborns are "refuseniks." Parents, having heard the diagnosis, renounce the child, leaving him in the care of the state.

Down syndrome is one of the most terrible diagnoses. This disease has been known to doctors since 1866. The English doctor Langdon Down drew attention to the girl with characteristic facial features and developmental delays. After that, doctors began to identify children very similar to each other. They have a peculiar cut of the eyes, specific forms of the bridge of the nose, auricles, an enlarged tongue, often falling out of the mouth, and a developmental delay. In the twentieth century, geneticists determined that such children have quantitative changes in chromosomes. A normal person has forty-six, and a down has one more. Where does the extra chromosome come from, throwing a tiny man to the sidelines of life, while only God knows. It is almost impossible to predict the birth of a down. At the fourth month of pregnancy, you can take a sample of amniotic fluid, check the blood, but there is no one hundred percent guarantee.

No one keeps official statistics of downs living in Novosibirsk and the Novosibirsk region. This year, we managed to count the "downs" in urban families, those who were not abandoned by their parents. There were one hundred and sixty-seven of them. But mostly they live in boarding schools, and, according to experts, the number of patients with Down syndrome in Russia is approaching the population of a small town.

In developed countries, such kids, at least theoretically, have equal rights with their healthy peers, they also receive education. In Russia they are outcasts. A year ago, a public organization "Down Syndrome" was created in Novosibirsk. The initiator was the mother of the down child Tatyana Esipova. The purpose of the "DS" - to ensure that children with disabilities have the right to a full human life. Is it possible?

Sonia Makagon and her drawings

Neither on my part, nor on the part of my husband, there have ever been any pathologies, - says Tatyana Pavlovna, - at the sixteenth week I passed the tests. The doctors said that everything is in order, the child is healthy. I gave birth four weeks later. When they told me that I had a down, I did not believe it. Then I became scared, it seemed that the whole world turned upside down. My husband offered me a choice: "Either I, or he." I couldn't give up my baby. I took Pavlik - that's my son's name - and began to study literature. There was nothing to build illusions on. Down syndrome is incurable. However, it is known that if you constantly deal with a child, teach him to speak, conduct a course of treatment, you can adapt him to the world around him. He will not become a full-fledged person, but he will be able to live in our society. For four years I sought the creation of our society, got acquainted with the parents of the "downyat". Now we have united in one family and are trying to help sick children. Over the past year, we have managed to prove that although the downs cannot master the technical sciences, they can do the humanities. Three months ago at the city competition "Kaleidoscope" Sonya Makagon's drawings were highly appreciated by the jury. In the art of drawing, she far surpassed many full-fledged peers.

The fate of Sonya's mother is not much different from the fate of Tatyana Esikova. She also brings up her daughter alone - her husband could not stand it and left the family, leaving not only the sick Sonya, but also the healthy four-year-old Sasha.

A year ago Sonya was taught to draw. The pencil slipped from the weak children's hands. Dots, dashes, circles. The girl did not cry, she tried, and after four months she began to draw smooth lines on a paper sheet. Then it turned out a dog, a house, a rooster. Now Sonya attends a kindergarten for ordinary children. True, as her mother says, she is unlikely to be taken to school. Teachers don't want to see downs at their desks. Sonina's mother does not give up, just as the little girl does not lose heart.

One of the most pressing problems today is to arrange a "down" in a regular school, - Esikova shares, sore, .- School directors categorically do not want to see downs at their desks. As a rule, they answer the same thing: "Down cannot master the school curriculum, send them to auxiliary classes." They do not understand that if a sick child is constantly among similar children, progress in learning is equal to zero. Down must observe the behavior of healthy children, learn from them. The experience of recent years proves that a child diagnosed with an extra chromosome can be taught a lot: to speak, write, navigate the city.

People with Down syndrome develop in the same way as everyone else, only much more slowly. Gradually, they increase the level of useful skills and behavior. Thus, it allows them to eventually even enter into a marital relationship. However, one should not conclude from this that all such patients must necessarily lead a married life. You just need to keep in mind that, having reached a certain age, downs can be socially adapted to a sufficient extent.

Nearly ninety percent of downs are infertile. Moreover, very few of them enter into intimacy at all, says Tatiana Esikova. - However, it is impossible to exclude that such a married couple may have a child. Having children for such people is probably still not worth it, but living together has its advantages. First of all, everyone will have a good friend with whom they can fully share their experiences and difficulties of learning social skills. Living together is also a huge boost to vocabulary development as well as the interests of both spouses with Down syndrome. Of great importance is the mutual sympathy that they experience for each other. It balances their personality, gives them independence and strength in order to cope with difficulties ... A few months ago we published a brochure in which it is quite fully described how to raise a "down child". In general, the most important thing is patience. Moreover, we hope that science will still invent a medicine, and our children will be able to become healthy.

So far, science has not invented a "killer" of an extra chromosome, but if downs are born, then our society needs it. After all, the downs are very happy people. They cannot do evil because they do not understand what it is. Simple-hearted and naive, they remain so until the end of their lives. They live in their own, only they understand the world, where they sometimes let us.

Among the Novosibirsk "downyats" there are even those who can write poetry.

Here is another poem written by a girl with Down syndrome

"Dad had male friends.
Ugh, and he was left alone (Dick).
affectionate, big
Our protector and friend.
He was dad's, but he became ours.
Beloved, good and gentle.
The dog has a soul
What about a person? Here's the question."

These are verses from the diary of a girl with Down syndrome. Her father died. They stayed with their mother and grandmother. Dick is their dog. Mom didn't want us to give the girl's last name.

Marina KORNILOVA
Evening Novosibirsk