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What is the history of 22q13 deletion / Phelan-McDermid Syndrome?

When was 22q13 deletion / Phelan-McDermid Syndrome discovered? What is the story of this discovery? Was it coincidence or not?

History of 22q13 deletion / Phelan-McDermid Syndrome

22q13 deletion syndrome, also known as Phelan-McDermid Syndrome, is a rare genetic disorder caused by the deletion or loss of a small piece of chromosome 22. This syndrome was first identified in 1983 by Dr. Katy Phelan and Dr. Heather McDermid, who noticed a pattern of developmental delays and intellectual disabilities in a group of patients.



The history of 22q13 deletion syndrome begins with the discovery of the syndrome itself. Dr. Phelan and Dr. McDermid were studying a group of individuals with unexplained developmental delays and noticed that they shared similar characteristics. They conducted genetic testing and found that these individuals had a deletion in the long arm of chromosome 22. This discovery led to the identification of a new syndrome, which was later named after the two doctors.



Since its discovery, researchers have made significant progress in understanding the causes and symptoms of 22q13 deletion syndrome. The syndrome is caused by the loss of a specific gene called SHANK3, which plays a crucial role in brain development and function. The loss of this gene disrupts the communication between nerve cells, leading to the characteristic features of the syndrome.



Individuals with 22q13 deletion syndrome often experience a range of symptoms that can vary in severity. These may include developmental delays, intellectual disabilities, speech and language impairments, low muscle tone, and autistic-like behaviors. Some individuals may also have physical abnormalities such as large ears, long face, and tall stature.



Over the years, researchers have also made progress in treatment and management of 22q13 deletion syndrome. While there is no cure for the syndrome, early intervention and supportive therapies can greatly improve the quality of life for affected individuals. Speech therapy, occupational therapy, and behavioral interventions are commonly used to address the specific needs of individuals with the syndrome.



Furthermore, the genetic testing techniques have advanced, allowing for more accurate diagnosis of 22q13 deletion syndrome. This has helped in identifying individuals with the syndrome earlier, enabling timely intervention and support.



Today, there are numerous support organizations and research initiatives dedicated to raising awareness about 22q13 deletion syndrome and supporting affected individuals and their families. These organizations provide resources, information, and a platform for individuals and families to connect and share experiences.



In conclusion, the history of 22q13 deletion syndrome dates back to its discovery in the early 1980s by Dr. Phelan and Dr. McDermid. Since then, significant progress has been made in understanding the causes, symptoms, and management of the syndrome. Ongoing research and support initiatives continue to improve the lives of individuals with 22q13 deletion syndrome and their families.


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Please I need to know the source and as we discover this syndrome , urgent

Posted Jun 27, 2017 by Javier Garcia 0

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I struggled with vision all my life. I was diagnosed with some colored blindness, near sidedness, and astigmatism. Then in 2013 cataracts was added to the mix. In 2015 I was wrongly diagnosed with having AMD and recommended I have cataracts removed a...

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