About Down Syndrome

By Henry-001 on

Condition Name and Other Names

  • Down Syndrome

  • Trisomy 21

  • Down’s syndrome (spelling commonly used in the UK)

What is Down Syndrome?

Down syndrome is a genetic condition in which a person is born with an extra full or partial copy of chromosome 21. This extra genetic material affects how the body and brain develop. People with Down syndrome may have some physical features in common, and they may experience developmental or learning differences, but each person is unique and has their own strengths, personality, and abilities.


Down syndrome is commonly divided into three types:

  • Trisomy 21: The most common type, where there is an extra copy of chromosome 21 in all cells.

  • Translocation Down syndrome: A less common type in which extra chromosome 21 material is attached to another chromosome.

  • Mosaic Down syndrome: A rarer type in which only some cells have an extra copy of chromosome 21.

Down syndrome happens before birth because of a random change in cell division. In most cases, it is not caused by anything the parents did or did not do before or during pregnancy.


Statistics and Trends

In the United States, about 5,700 babies are born with Down syndrome each year. That is about 1 in every 640 babies.


Down syndrome is one of the most common chromosomal conditions diagnosed in babies.


History

  • In 1866, English physician John Langdon Down published a clinical description of the condition. The condition was later named after him.

  • In 1959, French geneticist Jérôme Lejeune identified that Down syndrome is associated with an extra chromosome 21. This discovery helped scientists understand the biological cause of the condition.

  • Over time, medical understanding and public language have changed. Today, respectful communication focuses on the person first, recognizing that people with Down syndrome are individuals with their own identities, lives, and potential. This aligns with current health guidance emphasizing support, inclusion, and individualized care.

Sources of Information

  • Centers for Disease Control and Prevention (CDC)

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  • National Institutes of Health (NIH)

  • NHS

For informational purposes only. Consult a medical professional for advice.


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