(GIST OF SCIENCE REPORTER) Edwards syndrome

(FEBRUARY-2024)

Edwards syndrome

• 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.

About 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 a 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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Courtesy: Science Reporter