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Edwards Syndrome


Prelims: Science and Tech (Diseases), Edwards Syndrome

Mains: General Studies-III Science and Technology- Developments and their Applications and Effects in Everyday Life.

Why in the News ?

Researchers have reported chromosomal disorders discovered from prehistoric skeletal remains, dating up to approximately 5,500 years old — including six cases of Down syndrome and one case of Edwards syndrome.

Source: TH

📌 FYI on Prelims

Down’s syndrome

  • Down syndrome is a genetic disorder, caused by the presence of an extra chromosome 21 also known as trisomy of chromosome 21.
  • It is one of the leading causes of genetic disorders around the world.
  • Types of Down syndrome: There are three types of Down syndrome.
    • Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
    • Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%). This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
    • Mosaic Down syndrome:  Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21.
  • The primary symptoms of Down’s Syndrome are as follows:
    • Mental retardation
    • Cognitive impairment may be mild to moderate
    • Tilted eyes or Fold of the skin above the eye etc.
  • Treatment: Down syndrome is a lifelong condition and it cannot be cured. Early therapy programs can help improve skills.


  • Edwards syndrome 

    • It is also known as trisomy 18.
    • It is an autosomal chromosomal disorder due to an extra copy of chromosome 18. 
    • It is a very severe genetic condition that affects child’s body development and growth.
    • Symptoms: Children diagnosed with trisomy 18 have a low birth weight, multiple birth defects and defining physical characteristics.
    • There are three types of Edwards syndrome
    • Complete trisomy 18:
      • It is the most common form (94%).
      • In this type, every cell contains three complete copies of chromosome 18.
      • The extra chromosome is most often of maternal origin.
    • Mosaic trisomy 18:
      • It is the second most common type (less than 5%).
      • In this type, both a complete trisomy 18 and a normal cell line exist.
    • Partial trisomy 18:
      • In this type, only a partial segment of chromosome 18 is present in triplicate.
      • The partial triplicate often results from a balanced translocation or inversion carried by one of the parents.
    • Treatment: There are no specific treatments for trisomy 18. Treatment will focus on the symptoms of the condition, such as heart conditions, breathing difficulties and infections.

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