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What is the history of 1p36 Deletion Syndrome?

When was 1p36 Deletion Syndrome discovered? What is the story of this discovery? Was it coincidence or not?

History of 1p36 Deletion Syndrome

1p36 Deletion Syndrome:


1p36 Deletion Syndrome is a rare genetic disorder that affects chromosome 1. It is characterized by the deletion of a small piece of genetic material on the short arm of chromosome 1. This missing piece of genetic material leads to a wide range of physical and developmental challenges in affected individuals.


Discovery and Naming:


The syndrome was first identified in the early 1990s when researchers noticed a pattern of similar symptoms in a group of individuals. Further genetic testing revealed the common deletion on chromosome 1, leading to the identification of 1p36 Deletion Syndrome. The name "1p36" refers to the specific location of the deletion on chromosome 1.


Prevalence:


1p36 Deletion Syndrome is considered one of the most common genetic disorders, with an estimated prevalence of 1 in every 5,000 to 10,000 births. It affects both males and females equally and is found in all ethnic and racial groups.


Clinical Features:


The clinical features of 1p36 Deletion Syndrome can vary widely from person to person. However, there are some common characteristics that are often observed. These include:



  • Developmental delays: Individuals with 1p36 Deletion Syndrome typically experience delays in reaching developmental milestones such as sitting, crawling, walking, and talking.

  • Intellectual disability: Most individuals with the syndrome have some degree of intellectual disability, ranging from mild to severe.

  • Distinct facial features: Some individuals may have characteristic facial features, including a prominent forehead, deep-set eyes, a pointed chin, and low-set ears.

  • Seizures: Seizures are common in individuals with 1p36 Deletion Syndrome, with different types and frequencies.

  • Heart defects: Approximately 60% of individuals with the syndrome have congenital heart defects, which may require medical intervention.

  • Hypotonia: Low muscle tone, or hypotonia, is often present in individuals with the syndrome, leading to difficulties with motor skills and coordination.


Genetics:


1p36 Deletion Syndrome is caused by the deletion of a small piece of genetic material on the short arm of chromosome 1. The size of the deletion can vary, and larger deletions tend to be associated with more severe symptoms. In most cases, the deletion occurs spontaneously and is not inherited from the parents. However, in some cases, the deletion can be inherited from a parent who carries a balanced translocation involving chromosome 1.


Treatment and Management:


There is no cure for 1p36 Deletion Syndrome, and treatment focuses on managing the symptoms and providing support to affected individuals and their families. Early intervention programs, including physical therapy, occupational therapy, and speech therapy, can help individuals with developmental delays reach their full potential. Seizures can be managed with anticonvulsant medications, and heart defects may require surgical intervention. Regular medical monitoring and specialized care from a multidisciplinary team are essential to address the specific needs of individuals with 1p36 Deletion Syndrome.


Research and Support:


Research into 1p36 Deletion Syndrome is ongoing, with the aim of better understanding the genetic mechanisms underlying the disorder and developing targeted therapies. Various support organizations and advocacy groups provide resources, information, and support to individuals and families affected by 1p36 Deletion Syndrome.


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When I was growing up I took ballet class, and I remember it was the finale my left arm up and it was like I can't even tell it was up unless my mom told me, we weren't sure what was going on I don't have a key. A couple weeks later I fell right on ...

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