Синдром Патау Синдром Патау - это х

Синдром Патау
Синдром Патау - это хромосомная аномалия, синдром при котором у пациента есть дополнительная 13 хромосома, в связи с нерасхождением хромосом во время мейоза (также известный как трисомия 13 и трисомия D). Некоторые из них вызваны робертсоновской транслокацией. Дополнительная 13 хромосома нарушает нормальный ход развития ребенка, а именно возникновение дефектов сердца и почек, кроме других особенностей, характерных для синдрома Патау. Как и все болезни, которые вызваны нерасхождением (такие как синдром Дауна и синдром Эдвардса), риск возникновения этого синдрома у потомства увеличивается с возрастом матери при беременности (в среднем с 31 года). Синдром Патау поражает примерно 1 человека из 10000 новорожденных.
Причины
В большинстве случаев причиной появления синдрома Патау является трисомия 13, которая означает, что каждая клетка тела имеет три копии 13 хромосомы вместо обычных двух. Кроме того, бывают случаи (их доля очень незначительна), когда лишь некоторые клетки организма имеют дополнительную копию хромосомы в результате смешанной популяции клеток с различным числом хромосом; такие случаи называют мозаичным синдромом Патау.
Данное заболевание может также возникать, когда часть 13 хромосомы привязывается к другой хромосоме (транслокуеться) до или в момент зачатия. Больные люди имеют две копии 13 хромосомы, плюс дополнительный материал из нее, подключенный к другой хромосоме. С транслокацией, человек имеет частичную трисомия 13 хромосомы, в связи с чем физические признаки синдрома часто отличаются от типичного случая.
В большинстве случаев синдром Патау не наследуется, а возникает как случайное событие в процессе формирования половых клеток (яйцеклеток и сперматозоидов). Ошибка в делении клеток, которая называется нерасхождением, может привести к появлению репродуктивных клеток с аномальным числом хромосом. Например, яйцеклетка или сперматозоид могут получить дополнительную копию хромосомы. Если одна из этих атипичных половых клеток будет вовлечена в генетической структуре ребенка, ребенок будет иметь дополнительную 13 хромосому в каждой из клеток организма. Мозаицизм синдрома Патау также не наследуется, а возникает как случайное нарушение при делении клеток в начале развития плода.
Синдром Патау может быть унаследован в связи с транслокацией. Здоровый человек может нести измененный генетический материал между 13 и другими хромосомами. Эта перестройка называется сбалансированной транслокацией, поскольку не было получено дополнительного материала с 13 хромосомы. Люди, являющиеся носителями данного типа, находятся в зоне повышенного риска рождения детей с этим заболеванием, хотя они и не имеют признаков синдрома Патау.

Результаты (английский) 1:

Patau Syndrome Patau syndrome is a chromosomal abnormality, a syndrome in which the patient has an additional chromosome 13 due to nerashoždeniem of the chromosomes during meiosis (also known as Trisomy 13 and Trisomy D). Some are caused by robertsonovskoj translocation. The additional chromosome 13 disrupts the normal course of development of the child, namely the occurrence of defects of the heart and kidneys, in addition to other features of Patau syndrome. As with all diseases that are caused by nerashoždeniem (such as down syndrome and Edwards syndrome), the risk of this syndrome in offspring increases with maternal age and pregnancy (from an average of 31 years). Patau syndrome affects approximately 1 in 10000 births. The reasons for In most cases, the cause of the syndrome is Trisomy 13 Patau, which means that each cell in the body has three copies of chromosome 13 instead of the usual two. In addition, there are cases (very small portion), when only some of the body's cells have an extra copy of the chromosome as a result of a mixed population of cells with a different number of chromosomes; such cases are called Mosaic Patau syndrome. This condition can also occur when part of chromosome 13 attached to another chromosome (translokuet′sâ) before or at the time of conception. Sick people have two copies of chromosome 13, plus additional material from it attached to another chromosome. With a translocation, the person has a partial Trisomy of chromosome 13, the physical symptoms of the syndrome are often different from the typical case. In most cases, Patau syndrome is not inherited but occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nerashoždeniem, can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the chromosome. If one of these atypical reproductive cells will be involved in the genetic structure of the child, the child will have an extra chromosome 13 in each of the cells of the body. Mosaic Patau syndrome is not inherited, and also occurs as a random violation during cell division in early fetal development. Patau syndrome can be inherited from the translocation. A healthy person can carry the modified genetic material between 13 and the other chromosomes. This restructuring is a balanced translocation, as no additional material from chromosome 13. People who are carriers of this type are in the high-risk zone, the birth of children with the disease, even though they have no signs of Patau syndrome.

Результаты (английский) 2:

Patau Syndrome
Patau's syndrome - a chromosomal abnormality, a syndrome in which the patient has an extra chromosome 13, due to nondisjunction during meiosis (also known as trisomy 13 and trisomy D). Some of them are caused by Robertsonian translocation. Additional chromosome 13 breaks the normal course of development of the child, namely the occurrence of defects in the heart and kidneys, among other features characteristic of the syndrome Patau. As with all diseases, which are caused by nondisjunction (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with the age of the mother during pregnancy (average 31 years). Patau Syndrome affects about 1 person in 10,000 births.
Causes
In most cases, the cause of Patau syndrome is trisomy 13, which means that every cell in the body has three copies of chromosome 13 instead of two. In addition, there are cases (their share is very small), when only a few cells of the body have an extra copy of chromosome resulting in a mixed population of cells with a different number of chromosomes; Such cases are called mosaic Patau syndrome.
This condition can also occur when part of chromosome 13 becomes attached to another chromosome (translokuetsya) before or at the moment of conception. Sick people have two copies of chromosome 13, plus additional material from it, attached to another chromosome. Translocation, a person has a partial trisomy of chromosome 13, in connection with which the physical signs of the syndrome are often different from typical cases.
In most cases, Patau syndrome is not inherited and occurs as a random event during the formation of gametes (eggs and sperm). Error in cell division, which is called nondisjunction may cause reproductive cells with an abnormal number of chromosomes. For example, the egg or the sperm can get an extra copy of the chromosome. If one of these atypical reproductive cells will be involved in the genetic makeup of the child, the child will have an extra chromosome 13 in every cell of the body. Patau syndrome mosaicism not inherited and occurs as an accidental violation of the division of cells in the early development of the fetus.
Patau Syndrome may be inherited due to the translocation. Healthy people can carry the modified genetic material between chromosomes 13 and others. This rearrangement is called a balanced translocation, since no additional material was obtained from 13 chromosomes. People who are carriers of this type are at increased risk of having children with this disease, even though they have no signs of Patau syndrome.

Результаты (английский) 3:

Trisomy
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