The largest number of chromosomes. Chromosome. How many chromosomes in different animals
Moscow, 4 Jul- RIA Novosti, Anna Urtseva. Who has a gene gene? As you know, some creatures have a more complex structure than others, and since everything is recorded in DNA, it should also be reflected in its code. It turns out, a person with his developed speech must be more difficult than a small round worm. However, if you compare us with a worm in the number of genes, it turns out about the same thing: 20 thousand genes of Caenorhabditis elegans against 20-25 thousand Homo Sapiens.
Even more offended for the "crown of earthly creatures" and "king of nature" are comparisons with rice and corn - 50 thousand genes with respect to human 25.
However, maybe we do not consider? The genes are "boxes" in which nucleotides are packed - the "letters" of the genome. Maybe calculate them? Human has 3.2 billion couples nucleotides. But the Japanese Voroniye Eye (Paris Japonica) is a beautiful plant with white flowers - has 150 billion pairs of grounds in its genome. It turns out that a person should be arranged 50 times easier for some flower.
And the two-way fisher is a protopater (two-way - possessing both gill and pulmonary breathing), it turns out, 40 times more difficult than a person. Maybe all the fish for some reason more complicated than people? Not. A poison fish of the Fugue, of which the Japanese are preparing a delicacy, has a gene of eight times less than that of a person, and 330 times less than that of a two-way protopter fish.
It remains to count chromosomes - but it confuses the picture even more. How can a person in the number of chromosoma be equal to the ash, and chimpanzee is a cockroach?
With these paradoxes, evolutionary biologists and genetics collided a long time ago. They were forced to admit that the size of the genome, in whatever we would neither try to count, is amazingly not associated with the complexity of the device of organisms. This paradox called the "riddle of values \u200b\u200bwith", where C is the amount of DNA in the cell (C-Value Parado, the exact translation is "paradox of genome"). And yet, some correlations between the species and kingdoms exist.
© RIA news illustration. A. Polanina
© RIA news illustration. A. Polanina
It is clear, for example, that eukaryotes (living organisms whose cells contain kernel) have an average genome more than prokaryotes (living organisms whose cells do not contain kernels). Vertebrates have an average genome more than invertebrates. However, there are exceptions that no one has yet been able to explain.
There were assumptions that the size of the genome is associated with the duration of the life cycle of the body. Some scientists argued on the example of plants that perennial species have larger genomes than annual, and usually with a difference several times. And the smallest genomes belong to the ephemeram plants that pass a full cycle from birth to death for several weeks. This question is currently being actively discussed in scientific circles.
Announces the leading researcher at the Institute of General Genetics. N. I. Vavilov Russian Academy of Sciences, Professor of Texas Agromechanical University and Gottingen University Konstantin Krasovsky: "The size of the genome is not related to the duration of the life cycle of the body! For example, there are views within one kind that have the same genome size, but may differ in life expectancy In dozens, if not a hundred times. In general, there is a connection of the size of a genome with the evolutionary advancement and complexity of the organization, but with a multitude of exceptions. Mostly the size of the genome is associated with the influence of the genome (and polyptloids are found in plants, and in animals) and The number of high-penetrating DNA (simple and complex repeats, transposons and other mobile elements). "
There are also scientists who adhere to another point of view on this issue.
The person has not yet been found in the chromosome. But sometimes in the cells there is an additional set of chromosomes - then they talk about polyploydia, and if their number is not multiple 23 - about Aneuploidy. Polyploidy occurs in individual types of cells and contributes to their strengthened work, while aneuploidy Usually indicates violations in cell work and often leads to her death.
Share must be honest
Most often, the incorrect amount of chromosomes is a consequence of unsuccessful cell division. In somatic cells after doubling the DNA, the Maternal chromosome and its copy are covered together by proteins with cohesives. Then the protein complexes of the kinetochor are sitting on their central parts, to which microtubules are attached later. When dividing on microtubules, the kinetokhores travels to different cell poles and pull the chromosomes. If the crosslinks between the copies of the chromosome are destroyed ahead of time, then microtubule can be attached to them from the same pole, and then one of the child cells will receive an extra chromosome, and the second will remain deprived.
Meiosis also often passes with errors. The problem is that the design of the clutch two pairs of homologous chromosomes can be twisted in space or separated in the wrong places. The result will again be a non-uniform distribution of chromosomes. Sometimes a genital cell can be traced to not pass the defect inheritance. Extra chromosomes are often incorrectly laid or torn, which launches the death program. For example, there is such a selection among spermatozoa in quality. But the eggs are less lucky. All of them in a person are formed before birth, they are preparing for division, and then get silent. Chromosomes have already doubled, the tetrads are formed, and the division is postponed. In this form, they live before the reproductive period. Then the eggs are in turn ripen, share the first time and get freeze again. The second division occurs immediately after fertilization. And at this stage, to check the quality of the division is already difficult. And the risks are more, because four chromosomes in the eggs remain crosslinked for decades. During this time, breakdowns accumulate in cohesives, and chromosome can be spontaneously separated. Therefore, the older woman, the greater the likelihood of the wrong divergence of chromosomes in the egg.
Aneuploidy in the genital cells inevitably leads to the Aneuploidy of the embryo. When fertilizing a healthy egg with 23 chromosomes with spermatozoomes with extra or missing chromosomes (or vice versa), the number of chromosomes in zigotes will obviously be different from 46. But even if sexual cells are healthy, it does not give guarantees of healthy development. In the first days after fertilization, the nucleus cell is actively divided to quickly dial the cellular mass. Apparently, in the course of rapid divisions there is no time to check the correctness of the chromosome discrepancy, therefore Aneupo cells may occur. And if an error occurs, the further fate of the embryo depends on what division it happened. If the equilibrium is already violated in the first division of the zygota, then the whole organism will grow aneuperoid. If the problem arose later, the outcome is determined by the ratio of healthy and abnormal cells.
Part of the latter can continue to die, and we will never learn about their existence. And can take part in the development of the body, and then it will turn out mosaic - Different cells will carry various genetic material. Mosaicism gives a lot of trouble with prenatal diagnosticities. For example, at risk of birth of a child with Down syndrome, one or more nucleus cells (at that stage, when it should not be dangerous) and consider chromosomes in them. But if the embryo is mosaic, then such a method becomes not particularly effective.
Third wheel
All the cases of Aneuploidy are logical into two groups: disadvantage and excess chromosomes. Problems arising from lack are quite expected: minus one chromosome means minus hundreds of genes.
If the homologous chromosome is working normally, the cell can be separated only by the insufficient number of proteins encoded there. But if some genes remaining on homologous chromosome do not work, then the corresponding proteins in the cell will not appear at all.
In the case of excess chromosomes, everything is not so obvious. Genes becomes more, but here - alas - no longer means better.
First, the extra genetic material increases the load on the kernel: additional DNA thread must be placed in the kernel and serving information reading systems.
Scientists have discovered that people with Down syndrome, whose cells are incurred by an additional 21st chromosome, mainly the work of genes on other chromosomes is disturbed. Apparently, the excess DNA in the kernel leads to the fact that proteins that support the work of chromosomes are not enough at all.
Secondly, the balance in the amount of cell proteins is disturbed. For example, if for some kind of process in the cell, proteins-activators and proteins inhibitors and their ratio usually depends on the external signals, the additional dose of some or others will cause the cell to stop adequately respond to an external signal. And finally, the Aneupo cells grow chances to die. When doubling the DNA, errors are inevitably arise before division, and the cellular proteins of the reparation system are recognized, read and run doubling again. If the chromosoma is too much, then the proteins are missing, the errors accumulate and the apoptosis is started - the programmable cell death. But even if the cell does not die and shares, the result of this division is also likely to be aneuploida.
To live will be
If even within one cell, the aneuploidy is fraught with disorders of work and death, it is not surprising that it is not easy for a whole aneuploidal organism. At the moment, only three autosomes are known - 13, 18 and 21st, trisomy for which (that is, an extra, third chromosome in cells) is somehow compatible with life. It is probably due to the fact that they are the smallest and carry the least genes. At the same time, children with trisomy through the 13th (Pataau syndrome) and the 18th (Edwards syndrome) chromosomes live at best to 10 years, and more often live less than a year. And only trisomy in the smallest in the genome, the 21st chromosome, known as Down syndrome, allows you to live up to 60 years.
Very rare people with common polyploydia. Normally, polyploid cells (carriers are not two, and from four to 128 kits chromosomes) can be detected in the human body, for example, in the liver or red bone marrow. This is usually large cells with enhanced protein synthesis, which does not require active division.
An additional set of chromosomes complicates the task of their distribution on the daughter cells, so polyploid embryos, as a rule, do not survive. Nevertheless, about 10 cases are described when children with 92 chromosomes (tetraploids) appeared on the light and lived from several hours to several years. However, as in the case of other chromosomal anomalies, they lagged in development, including mental. However, many people with genetic anomalies comes to help mosaicism. If an anomaly has already evolved during the crushing of the embryo, then some cells can remain healthy. In such cases, the severity of symptoms is reduced, and the life expectancy is growing.
Gender injustice
However, there are such chromosomes, the increase in the number of which is compatible with the life of a person or even passes unnoticed. And this, no matter how surprisingly, sex chromosomes. The reason for this is gender injustice: about half of the people in our population (girls) x-chromosomes are twice as large than others (boys). At the same time, the X-chromosomes serve not only to determine the floor, but also carry more than 800 genes (that is, two times more than the extra chromosome, which delivers a lot of harm to the body). But girls comes to the rescue of the natural mechanism of elimination of inequality: one of the X chromosomes is inactivated, twisted and turns into the Barra Taurus. In most cases, the choice occurs randomly, and in a number of cells as a result of the mother of the Maternal X-chromosome, and in others - the paternal. Thus, all girls turn out to be mosaic, because different copies of genes work in different cells. The classic example of such a mosaic is the turtle cats: there is a gene that is responsible for melanin (pigment, which determines, among other things, the color of the wool) on their x-chromosome. Different copies work in different cells, so the color is obtained spot and is not inherited, since the inactivation occurs randomly.
As a result of inactivation in human cells, only one X chromosome always works. This mechanism avoids serious trouble at the X-Trisomy (Girls XXX) and Sherosezhevsky Syndrome - Turner (Cho) or Klinfelter (Boys XXY). This is born about one of 400 children, but life functions in these cases are usually not violated substantially, and even infertility does not always occur. It is more difficult for those who have more than three chromosomes. This usually means that chromosomes did not dissolve twice in the formation of genital cells. Cases of Tetrasomia (XXXX, XXYY, XXXX, XYYY) and Pentasomy (XXXXX, XXXXY, XXXYY, XXYYY, XYYYY) are rare, some of them are only described in the entire history of medicine. All these options are compatible with life, and people often live to old years, while deviations appear in the anomalous development of the skeleton, genital defects and a decrease in mental abilities. Which is characteristic, an additional Y-chromosome by itself affects the work of the body is rustic. Many men with XYY genotype do not even know about their features. This is due to the fact that the Y-chromosome is strongly less than x and almost does not carry genes affecting viability.
The genital chromosome has another interesting feature. Many of the genes of genes located on autosomas lead to deviations in the work of many tissues and organs. At the same time, most of the mutations of genes on sex chromosomes is manifested only in violation of mental activity. It turns out that a substantial degree of genital chromosomes control the development of the brain. Based on this, some scientists express the hypothesis that it was on them responsible for the differences (however, not to the end confirmed) between the mental abilities of men and women.
Who benefits to be wrong
Despite the fact that medicine is familiar with chromosomal anomalies for a long time, recently, Aneuploidy continues to attract the attention of scientists. It turned out that more than 80% of tumor cells contain an unusual chromosome. On the one hand, the reason for this can be the fact that proteins that control the quality of division can slow down. In tumor cells, these same proteins are often mutated, therefore, restrictions on division are removed and the chromosome check does not work. On the other hand, scientists believe that this can serve as a factor in the selection of tumors for survival. According to such a model, tumor cells first become polyploid, and then as a result of division errors lose different chromosomes or their parts. It turns out a whole population of cells with a large variety of chromosomal anomalies. Most of them are unsuitable, but some may accidentally be successful, for example, if additional copies of genes that run division are accidentally obtained, or will lose the genes, its overwhelming. However, if you additionally stimulate the accumulation of errors in division, then the cells will not survive. In this principle, the action of a taxi is based - a common cancer drug: it causes a systemic chromosome in the tumor cells, which should run their programmable death.
It turns out that each of us may be a carrier of extra chromosomes, at least in individual cells. However, modern science continues to develop strategies to combat these unwanted passengers. One of them offers to use proteins that are responsible for the X-chromosome, and to raise, for example, on the extra 21 chromosome people with Down syndrome. It is reported that at cell cultures, this mechanism managed to act. So, perhaps, in the foreseeable future, dangerous extra chromosomes will be tamed and neutralized.
Will Charles Darwin renounced at the end of life from their theory of human evolution? Did the ancient people of dinosaurs caught? Is it true that Russia is a cradle of mankind, and who is this Yeti - is there alone from our ancestors lost in the centuries? Although Paleoanthropology - the science of man's evolution - is experiencing a stormy flourishing, the origin of man is still surrounded by a multitude of myths. These are anti-evolutionist theories, and legends generated by the mass culture, and the accumulating representations that are among the people of educated and well-read. Want to know how everything was "actually"? Alexander Sokolov, chief editor of the portal Anthropogenesis.ru, gathered a whole collection of similar myths and checked how important they are.
At the level of household logic, it is obvious that "the monkey is cooler than a person - she has two chromosomes more!". Thus, "the origin of a person from the monkey is finally refuted" ...
We will remind our respected readers that chromosomes are such things in which DNA is packed in our cells. A person has 23 pairs of chromosomes (23 I got from mom and 23 from Pope. Total 46). A complete set of chromosomes is called "karyotype". Each chromosome is contained in a tightly twisted form a very large DNA molecule.
It is important not the number of chromosomes, but those genes that are contained in these chromosomes. The same set of genes can be packed in a different number of chromosomes.
For example, two chromosomes took and merged into one. The number of chromosomes decreased, but the genetic sequence that is contained in them remains the same. (Imagine that the wall broke between two adjacent rooms. It turned out one large room, but the content - furniture and parquet - former ...)
The fusion of chromosomes and occurred at our ancestor. That is why we have two chromosomes less than that of chimpanzees, despite the ways are almost the same.
How do we know about the proximity of human and chimpanzees genes?
In 1970? E GG, when biologists have learned to compare genetic sequences of different species, it was done for humans and chimpanzees. Specialists waited for shock: " The difference in the nucleotide sequences of the substance of heredity - DNA - amounted to a person and chimpanzee as a whole 1.1%, - wrote the famous Soviet primatologist E. P. Friedman in the book "Primate". - ... Types of frogs or protein within the same kind differ from each other at 20-30 times more than chimpanzees and man. It was so surprising that it was urgent to somehow explain the inconsistency of molecular data by what is known at the level of a holistic organism.» .
And in 1980 in the authoritative journal Science The article of the Genetic Council of the University of Minneapolis The Striking Resemblance of High-Resolution G-Banded Chromosomes of Man and Chimpanzee ("The striking similarity of painted with a high resolution of a man and chimpanzee chromosomes") was published.
The researchers applied the newest methods of coloring chromosomes at that time (in chromosomes, transverse strips of different thicknesses and brightness appear; at the same time, each chromosome is characterized by its special set of strips). It turned out that man and chimpanzees are almost identical to chromosomes! But what about the extra chromosome? And very simple: if opposite the second chromosome of a person to put in one line 12? Yu and 13? Yu chromosome chimpanzees, connecting them by the ends, we will see that together they constitute the second human.
Later, in 1991, the researchers looked at the point of the alleged merge on the second human chromosome and found what they were looking for, the DNA sequences characteristic of the telomer - end plots chromosomes. Another proof that there was two in the place of this chromosome!
But how does such a merger occur? Suppose someone from our ancestors has two chromosomes connected to one. It turned out an odd number of chromosomes - 47, while the rest, not mutating individuals, are still 48! And how was such a mutant then multiplied? How can the individuals with a different number of chromosoma can be cross?
It would seem that the number of chromosomes clearly distinguishes views between themselves and is an irresistible obstacle to hybridization. What was the surprise of researchers when, studying karyotypes of various mammals, they began to detect the scatter among chromosomes inside some species! So, in different populations of ordinary burlacks, this figure can walk from 20 to 33. A varieties of musk-darling, as noted in the article P. M. Borodina, M. B. Rogacheva and S. I. Ode, "differ more from each other than a person from chimpanzees: animals living in the south of Industan and Sri Lanka , have 15 pairs of chromosomes in the karyotype, and all the rest of the excavation from Arabia to Oceania islands - 20 pairs ... It turned out that the number of chromosomes decreased because five pairs of typical species chromosome merged with each other: 8? I'm from 16? y, 9? Me from the 13th? th, etc. »
Riddle! Let me remind you that with a cellular division, as a result of which sex cells are formed, each chromosome in the cell must be connected with its pair-homolog. And here, when merging, the unpaired chromosome arises! Where to go to her?
It turns out that the problem is solved! P. M. Borodin describes this process, which he personally registered in 29? Chromosomal Punar. Punar - bristly rats inhabitants in Brazil. Outcomes with 29 chromosomes turned out when crossing between 30- and 28? Chromosomal Punar belonging to various populations of this rodent.
With meyosis in such hybrids, paired chromosomes have successfully found each other. "And the remaining three chromosomes formed the top three: on the one hand, a long chromosome received from 28? Chromosomal parent, and on the other - two shorter, which came from 30? Chromosomal parent. At the same time, each chromosome got up in its place. "
Are all living organisms have chromosomes? Does all mammalian cells have data data? How many chromosomes have a particular organism? Genetics are studying such issues. For many similar questions, the answers have already been received. Data on quantity, sizes and shape chromosomes are increasingly used in other biological sciences. In particular in systematics.
Chromosome are informational structures
What is chromosome? If we consider the eukaryotic cell under a large magnification, then with the usual state of this "brick" of the body, we will not see any chromosome-like structures. They are formed only before dividing the cells, and immediately after the end of the reproduction, dense structures disappear, as if dissolved. Chromosomes are necessary for the uniform distribution of informational material between the daughter cells. They are formed by the DNA molecule and proteins that support the dense structure of the chromosome.
What is karyotype
Each chromosome has its own size and shape. One kind of organisms is characterized by a certain set of chromosomes. In different individuals of one species, there is always the same amount of these information structures, these structures are of size and shape characteristic of a specific type.
Thus, the karyotype is the external signs of chromosomes and their number of individuals of one species. In contrast to the genome, the karyotype does not include specific signs of individuals, but only the appearance of chromosomal structures. Signs of karyotype help systematics correctly distribute living organisms on taxonomic groups.
How many chromosomes in dogs
Each type of body has a certain number of chromosomes. This applies to all eukaryotes. Prokaryotes have a ring molecule DNA, which, when dividing the cell, is also doubled and without the formation of chromosomal structures is distributed across the daughter cells.
The number of chromosomes is extremely different from different representatives of the animal and vegetable kingdoms. For example, a person in somatic cells has 46 chromosomes. This is a diploid set. In human genital cells 23 structures. How many chromosomes in dogs? Their quantity is impossible to just guess for each body. The karyotype of the dog consists of 78 chromosomes. How much does chromosome in the wolf in this case? Here it is similar to the karyotype. Because all wolves are relatives to each other and a home dog. Almost all wolves also have 78 chromosomes in somatic cells. The exception is a red wolf and
How many chromosomes in dogs in sex cells? In the genital cells are always two times less chromosomes than in somatic. Because they are distributed equally between the daughter cells during MEIOS.
The pet family includes, except for dogs and wolves, also foxes. In the karyotype of the dog 78 chromosomes. How many chromosomes have foxes? Taxonomic foxes are very heterogeneous by the number of chromosomes. The ordinary fox is 38. In the sandy - 40. In Bengalskaya - 60.
How many chromosomes in the erythrocytes of the dog?
Erythrocytes are red blood cells serving oxygen carriers. How are they arranged? Mature red blood cells must accommodate a large amount of hemoglobin. That is why they do not have many organoids, including chromosomes, because there is no nucleus.
However, there are dogs in the blood, as in human blood, reticulocyte-immature red blood cells. They are only 1-2 percent of the total number of red blood cells. Reticulocytes contain ribosomal RNA, mitochondria, ribosomes, a Golgi complex. But after a day or one and a half days, the reticulocytes are transformed into mature erythrocytes that do not contain DNA, and, therefore, chromosomal structures.
How many chromosomes in the karyotype of other animals
Types of animals are very diverse in karyotype. Moreover, the amount of chromosomes in the cells of cells of various animals does not depend on the complexity of the organization of a living being. For example, in a somatic frog cell 26 chromosomes. Chimpanzee is 48, which is a little more than a person. Homemade chicken - 78 structures. This is as much as chromosomes in dogs. The carp of their 104, and in the Mine energles - the relaxious spinal - 174.
Chromosomal set of plants
Kariotype of plant forms is also extremely diverse. In a soft wheat with a hexaploid set of chromosomes - 42 informational structures, rye - 14, in corn - 20. Tomatoes have 24 chromosome in each cell, as much as rice. Topinambur - 102.
There are absolute records of chromosomes in the kingdom of plants. These are fern.
In the cell of this ancient plant, about 1,200 chromosomes are counted. Many such structures in the chewing: 216.
Thus, in all eukaryotic cells, except erythrocytes, there are chromosomes. Depending on the type of animal or plant, the quantitative composition of chromosomes is also changing, as well as their size and form. It is precisely because chromosomes have different sizes, the amount of these structures is so different. The smaller the structure, the most likely, the number of them will be large.
The human body is a complex multifaceted system that functions at various levels. In order for organs and cells to work in the right mode, certain substances should be involved in specific biochemical processes. For this, a solid base is necessary, that is, the correct transmission of the genetic code. It is the hereditary material that manages the development of the embryo.
However, in hereditary information sometimes there are changes that appear in large associations or relate to individual genes. Such errors are called gene mutations. In some cases, such a problem relates to the structural units of the cell, that is, to whole chromosomes. Accordingly, in this case, the error is called chromosome mutation.
Each human cell normally contains the same amount of chromosomes. They are united by the same genes. The full set is 23 pairs of chromosomes, but in sex cells 2 times less. This is explained by the fact that in fertilization, the merger of the sperm and egg cells should represent a full combination of all necessary genes. Their distribution is not 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. Lenzhen was found that violation in human mental people and resistance to infections is directly related to the speech about the extra 21 chromosome. She is one of the smallest, but the genes are concentrated in it. Extra chromosome was observed in 1 of 1,000 newborns. This chromosomal disease is currently the most studied and called Down syndrome.
In the same 1959, it was studied and proven that the presence of unnecessary X-chromosome in men leads to the disease of the Klyinfelter, in which a person suffers from mental retardation and infertility.
However, despite the fact that chromosomal anomalies are observed and studied quite a long time, even modern medicine is not able to treat genetic diseases. But it is quite upgraded by the methods of diagnosing such mutations.
Causes of excess chromosome
Anomaly is the only reason for the occurrence of 47 chromosomes instead of laid 46. Specialists in the field of medicine it was proved that the main reason for the occurrence of extra chromosome is the age of a future mother. The older is pregnant, the greater the likelihood of chromosomes. Only for this reason women are recommended to give birth up to 35 years. In the event of pregnancy, after this age, there should be a survey.
The factors that contribute to the emergence of unnecessary chromosome include the level of anomaly, increased in general in the world, the degree of environmental pollution and much more.
It is believed that the extra chromosome occurs if there were similar cases in the genus. These are just a myth: studies have shown that parents whose children suffer from chromosomal disease have a completely healthy karyotype.
Diagnostics of the appearance of a child with chromosomal anomaly
Recognition of the chromosome disorder, the so-called screening of Aneuploidy, reveals a disadvantage of a disadvantage or a chromosome oversumbling. Pregnant women older than 35 years are encouraged to undergo a procedure for obtaining a sample of spindle water. If a violation of the karyotype is discovered, then the future mother will need to interrupt pregnancy, since the child's born all life will suffer from severe disease in the absence of effective treatment methods.
The chromosomes violation mainly has a maternal origin, so it is necessary to analyze not only the cells of the embryo, but also substances that are formed during the ripening process. Such a procedure is called the diagnosis of genetic disorders in the polar vessels.
Down syndrome
Scientist, first described the Mongolism, is Down. Excess chromosome, the disease of the genes in the presence of which is necessarily developed, is widely studied. In the Mongolism, trisomy of 21 chromosome occurs. That is, in a sick person, instead of the laid 46, 47 chromosomes are obtained. The main feature is a lag in development.
Children who have existence of extra chromosomes are experiencing serious difficulties of mastering the material in a school institution, so they need an alternative learning technique. In addition to mental, there is a deviation in physical development, namely: diagonal eyes, flat face, wide lips, flat language, shortened or extended limbs and feet, large leather accumulation in the neck. The life expectancy on average reaches 50 years.
Syndrome Pataau.
Trisomy also belongs to Pataau syndrome, in which 3 copies of 13 chromosome are observed. A distinctive feature is the violation of the activities of the CNS or its undeveloped. Patients have multiple defective defects, it is possible, including hearts. More than 90% of people with Patau syndrome die in the first year of life.
Edwards syndrome
This anomaly, like the previous ones, belongs to Trisomy. In this case, we are talking about 18 chromosome. characterized by various violations. Basically, patients have bone deformation, a changed shape of the skull, problems with respiratory organs and the cardiovascular system. Life expectancy is usually about 3 months, but some babies live up to the year.
Endocrine diseases with chromosome anomalies
In addition to the listed chromosomal abnormality syndromes, there are other, in which the numerical and structural anomaly is also observed. These diseases include the following:
- Triploidy - a rather rare chromosome disorder, in which their modal number is 69. The pregnancy usually ends with early miscarriage, but when survival, the child lives no more than 5 months, numerous innate defects are observed.
- Wolf Hirshorn syndrome is also one of the rarest chromosomal anomalies, which develops due to the deternal end of the chromosome's short shoulder. The critical area of \u200b\u200bthis disorder is 16.3 on chromosome 4p. Characteristic signs - problems in the development, delays in growth, convulsions and typical features
- Prader-Willie syndrome - the disease is very rare. With such an abnormality, chromosomes 7 genes or their some parts on 15 paternal chromosome do not function or removed at all. Signs: Scoliosis, squint, delay in physical and intellectual development, fast fatigue.
How to raise a child with a chromosomal disease?
Railing a child with congenital chromosomal diseases is not easy. In order to facilitate your life, you need to adhere to some rules. First, despair and fear should be overcome immediately. Secondly, you do not need to spend time on the search for the guilty, it is simply not. Thirdly, it is important to determine what kind of assistance is required by a child and family, and then contact specialists for medical and psychological and pedagogical help.
In the first year of life, the diagnosis is extremely important, since during this period a motor function develops. With the help of professionals, the child will quickly acquire motor skills. It is necessary to objectively examine the kid on the pathology of view and hearing. Also, the child should be observed in a pediatrician, a psychoneurologist and an endocrinologist.
The carrier of excess chromosomes is usually friendly, which makes it easier for his upbringing, he also tries to earn adult approval as his strength. The level of development of a special kid will depend on how hard it will be emphasized for the main skills. Sick children though behind the rest, but require a lot of attention. It is always necessary to encourage the autonomy of the child. Self-service the skills should be in their own example, and then the result will not wait long.
Chromosomal diseases are endowed with special talents that need to be revealed. It may be music or drawing. It is important to develop a toddler's speech, play active and developing motility games, read, and also teach to the regime and accuracy. If you show all your tenderness, care, care and affection, he will answer the same way.
Is it possible to cure?
To date, chromosomal diseases are impossible; Each proposed method is experimental, and their clinical efficacy has not been proven. Systematic medical and pedagogical assistance helps to achieve success in the development, socialization and acquisition of skills.
The sick child should be observed all the time with specialists, as medicine has come to the level at which it is capable of providing the necessary equipment and various types of therapy. Teachers will also apply modern approaches in the teaching and rehabilitation of the baby.
