What are chromosomal disorders?
When eggs and sperm or sex cells first meet at the point of conception, there is a sitting chromosomes that will help to determine almost all things about a growing child. Ideally, this meeting works well, but sometimes there are mistakes and people get extra, deleted or partially missing chromosomes. This can cause a number of chromosomal disorders, many of which are so serious that pregnancy ends with abortion. If abortions were not common, parents may never know that a lost child had chromosomal problems, because it is not something that is usually evaluated. In other circumstances, chromosomal disorders do not cause death but can affect the life and health of the child to a greater or lesser extent. The most famous of these is Down's syndrome, also known as trisomy 21. It describes a situation where children get three instead of two copies of 21.Chromosome, resulting in different conditions that may vary from expression. Some of the symptoms of this condition include moderate to medium retardation, changes in expression oBličeje and greater risk of congenital heart defects or diseases. To confuse matters, some people have Mosaic Down syndrome, where only some cells have a third chromosome, and it can change a lot or a bit.
Unlike Down syndrome, there are chromosomal disorders where another sex chromosome, such as X or Y, is inherited, or where part of the sex chromosome is missing. Missing sex chromosomes can cause chromosomal disorders such as Turner's syndrome in girls, resulting in infertility, slow growth, inability to achieve puberty and potential defects of other organs. When it is caught soon, this condition can be treated with things such as hormones that help grow with growth and attainment. On the other hand, women may inherit the third X, which may not be obvious because it causes very few symptoms.
When boys get second or third x, the result is notso good. Boys can develop clinfelter syndrome that can cause infertility or low levels of male hormones in adulthood. This could be treated with male hormones. There may be a number of other problems with X or Y-chromosomes, each of which results in chromosomal disorders.
Further disorders could arise from partially missing, fully missing or poorly shaped or inverted chromosomes. The conditions that could result in depends on the chromosome number and sometimes there is no "disorder" associated with some chromosomal errors. People usually recommend doctors, especially if they are over 35 years of age to have chromosome analysis or testing while the child is in the uterus. There are certain risks for testing, but also the risks of unconsciousness. It is a matter that every family must carefully consider.
Another thing that is important to realize is that even in diagnosed chromosomal disorders it is usually difficult to say how serious it will be expressedthis disorder. Some conditions, such as trisomy 18, have a relatively predictable level of decline, which tends to cause death soon after the birth of a child. It may be much harder to predict the degree of problems or functionality that a child with other types of disorders such as trisomy 21 (down) will have.
This aspect of chromosome disorder remains mysterious in many cases, making parents a strong idea of what life in a child who has chromosomal disorders could be. In addition, there are many chromosomal errors with a small to no expression. A mistake can simply be a mistake that has no impact on the child's life.