PMF IAS Current Affairs
PMF IAS Current Affairs
  • Context (TH): Researchers have reported chromosomal disorders in prehistoric skeletal remains dating back up to 5,500 years.
  • The research marks the 1st identification of Edwards syndrome from historic or prehistoric remains.
  • The findings date back to the Bronze Age (around 2,700 BCE) and the Neolithic period (around 3,500 BCE).

Down syndrome

  • Down syndrome is named after the physician Langdon Down, who first observed this condition.
  • It is due to the presence of an extra chromosome 21, also known as trisomy of chromosome 21.
    • This extra copy changes how a baby’s body and brain develop. It can cause both abnormal mental and physical development during their lifetime.
  • Down syndrome is also due to the translocation of a part of a chromosome to another chromosome.
  • It is one of the leading causes of genetic disorders around the world. It is mostly not inherited.
  • It is a chromosomal disorder caused by abnormal cell division.
  • It is due to aneuploidy of the autosome (any chromosome that is not a sex chromosome).
  • Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example, a human cell having 45 or 47 chromosomes instead of the usual 46.
  • There is no cure; only the quality of life can be improved by taking extra care.

Down Syndrome

  • The occurrence of Down syndrome is 1:800 live births.
  • The primary risk factor is the age of the mother. Most trisomy cases occur in mothers aged more than 35.

Edwards syndrome

  • It is named after Dr. John H. Edwards, who first described the condition in 1960.
  • Also known as Trisomy 18, it is a chromosomal disorder caused by the presence of an extra copy of chromosome 18.

Edwards Syndrome

  • Edwards syndrome is a rare congenital disorder that affects approximately 1 in every 5,000 live births.
  • There is no cure for Edwards syndrome, and treatment focuses on managing the individual symptoms and providing supportive care.
  • Symptoms: Low birth weight, small head, intellectual disability and developmental delays, Facial abnormalities, etc.

Types of Trisomy 18

  • Full/Complete Trisomy 18: This is the most common form of Edwards syndrome, where every cell in the body contains three copies of chromosome 18.
  • Mosaic Trisomy 18: In this form, some cells have the extra chromosome 18, while others have the normal pair.
    • Mosaic Trisomy 18 often leads to milder symptoms compared to full Trisomy 18.
  • Partial Trisomy 18: This occurs when only a portion of chromosome 18 is duplicated instead of the entire chromosome.
    • Partial Trisomy 18 is the least common form and often results from specific genetic abnormalities.

 

Sharing is Caring !!

Newsletter Updates

Subscribe to our newsletter and never miss an important update!

Assured Discounts on our New Products!

Leave a Reply

Your email address will not be published. Required fields are marked *

Newsletter

Never miss an important update!