Deletion syndromes are genetic disorders caused by the deletion of genetic material, which can vary in severity and affect populations worldwide. They can develop in several ways, including errors during egg or sperm production, fetal development, and frameshift mutations. Some deletion syndromes can cause anomalies incompatible with life, while others can result in disabilities. The severity of a deletion syndrome depends on the location of the missing DNA, and genetic testing can identify missing or translocated DNA.
A deletion syndrome is a genetic disorder caused by the deletion of genetic material. Several congenital conditions including Cri Du Chat syndrome, DiGeorge syndrome, 22q13 deletion syndrome, and Phelan-McDermid syndrome are examples of deletion syndromes. These genetic disorders can vary widely in severity and can be seen in populations around the world. Some people are more at risk than others.
There are several ways a deletion syndrome can develop. One is an error during egg or sperm production that causes a segment to be cut off a chromosome. Sometimes, errors early in fetal development lead to partial deletions on chromosomes. More rarely, a parent carries a chromosome with a deleted segment in a condition known as a balanced translocation in which the genetic material is moved around. The child may inherit the chromosome with the missing piece and not the rest of the genetic data, causing a deletion syndrome. In a condition known as a frameshift mutation, the base pairs following a deleted string of DNA are not read correctly, and the proteins encoded with that DNA are incorrect.
In some cases, the elimination of a segment of the chromosome causes anomalies incompatible with life. Typically, a miscarriage begins very early in fetal development. Women experiencing recurrent miscarriages may request genetic testing of the miscarriage, as well as themselves and their partner, to determine whether a genetic disorder such as a deletion syndrome was involved and to explore possible causes of the miscarriages. If one parent has a balanced translocation, for example, this could explain the miscarriages.
Other deletion syndromes result in a fetus that can be carried to term, but may have a variety of disabilities. Deletion syndromes can involve any part of the body, and multiple genes can be involved in a contiguous gene deletion syndrome. A child can be born with physical abnormalities and can develop intellectual and cognitive disabilities due to changes that have occurred within the brain.
Sometimes, people have missing genetic material and don’t experience obvious diseases until later in life. Others may have relatively mild symptoms. The severity of a deletion syndrome depends entirely on the location of the missing segment of DNA. Genetic testing can be used to identify missing or translocated DNA. Some deletions are so rare that they don’t have names, because they haven’t been observed and researched yet. Others are relatively common and can be highly recognizable even without genetic testing.
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