We are independent & ad-supported. We may earn a commission for purchases made through our links.
Advertiser Disclosure
Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.
How We Make Money
We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently of our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What is a Deletion Syndrome?

Mary McMahon
By
Updated Mar 03, 2024
Our promise to you
The Health Board is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At The Health Board, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject-matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

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 they can be observed in populations all over the world. Some people are at greater risk than others.

There are several ways that a deletion syndrome can develop. One is a mistake during the production of egg or sperm cells that results in snipping a segment from a chromosome. Sometimes, early errors during fetal development lead to partial deletions on the chromosomes. More rarely, a parent carries a chromosome with a deleted segment in a condition known as a balanced translocation where genetic material is moved around. The child may inherit the chromosome with the missing piece and not the rest of the genetic data, resulting in a deletion syndrome. In a condition known as a frameshift mutation, the base pairs that follow a deleted string of DNA are not read properly and the proteins coded with that DNA are incorrect.

In some cases, deletion of a segment of chromosome results in abnormalities that are inconsistent with life. Typically, a miscarriage will onset very early in fetal development. Women who experience recurrent miscarriages can request genetic testing of the abortus, as well as herself and her partner, to determine whether a genetic disorder such as a deletion syndrome was involved and to explore possible causes for the miscarriages. If one of the parents 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 in a contiguous gene deletion syndrome, multiple genes may be involved. A child may be born with physical anomalies and can develop intellectual and cognitive disabilities due to changes that occurred inside the brain.

Sometimes, people have missing genetic material and experience no obvious ill affects 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 do not have names, because they have not been observed and researched yet. Others are relatively common and can be highly recognizable even without genetic testing.

The Health Board is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.
Mary McMahon
By Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a The Health Board researcher and writer. Mary has a liberal arts degree from Goddard College and spends her free time reading, cooking, and exploring the great outdoors.

Discussion Comments
Mary McMahon
Mary McMahon

Ever since she began contributing to the site several years ago, Mary has embraced the exciting challenge of being a...

Learn more
The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.

The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.