What is a deletion syndrome?
Syndrom delece je genetická porucha způsobená delecí genetického materiálu. Several congenital states including Cri du Chat, DigEorge syndrome, 22Q13 deletion syndrome and Phelan-McDermid syndrome are examples of deletion syndromes. These genetic disorders can be very different in severity and can be observed in populations around the world. Some people are at greater risk than others.
There are several ways to develop a deletion syndrome. One of them is the error in the production of eggs or sperm, which results in cutting off the segment from the chromosome. Sometimes timely errors during fetal development lead to partial delections on chromosomes. Rarely the parent carries a chromosome with a segment removed in a state known as a balanced translocation where genetic material moves. The child can inherit the chromosome with a missing piece and not the rest of the genetic data, resulting in a deletion syndrome. In the state of the Known as a mutation with a frameshift, the basic pairs that follow the deleted DNA string are not administrationThey are read and proteins coded with this DNA are incorrect.
In some cases, the erase of the chromosome segment leads to abnormalities that are contrary to life. Usually abortion will be the start very soon in the development of the fetus. Women experiencing repeating abortions can apply for genetic testing of abortus, as well as themselves and its partner to determine whether a genetic disorder such as deletion syndrome has been involved and explore the possible causes of abortion. For example, if one parent has a balanced translocation, it could explain abortion.
other deletion syndromes lead to the fetus that can be transmitted to a term but may have different disabilities. Deletion syndromes may include any part of the body and more genes can be involved in the neighboring genue syndrome. A child may be born with physical anomalies and may develop intellectual and cognitive disabilities as a result of the changes to which you doLO inside the brain.
Sometimes people lack genetic material and experience no apparent influence until later in life. Others may have relatively mild symptoms. The severity of the deletion syndrome completely depends entirely on the location of the missing DNA segment. Genetic testing can be used to identify missing or translocked DNA. Some delections are so rare that they do not have names because they have not yet been observed and explored. Others are relatively common and can be highly recognizable even without genetic testing.