Down Syndrome  E-mail

DOWN SYNDROME

What is Down Syndrome?

Down syndrome is a genetic condition (i.e. Something a person is born with and is present from the moment of conception). In Down Syndrome, there is the presence of an extra chromosome. The condition was first described by John Langdon Down in 1866 and the extra chromosome was discovered by Professor Jerome Lejeune, a Fench geneticist, in 1959.

As yet, no one knows what causes the presence of the extra chromosome. It can come from either the mother or the father. There is an increased risk of a baby having Down Syndrome if they are born to older mothers, but it is important to remember that nothing the parents did before or during pregnancy has caused it.

The Medical Stuff - In downs syndrome, instead of the normal complement of 2 copies of chromosome 21, there is a whole or sometimes part of an additional chromosome 21. Normally humans have 46 (23 pairs) chromosomes. A few individuals have the masaic form of trisomy 21, which means that some body cells have 46 chromosomes while others have 47. The severity of the condition is dependant on the proportional relation of normal to abnormal cells.

Common signs of Down's Syndrome

  • Muscles and joints may be loser
  • May have a lower birth weight and put on weight slower
  • The back of the babies head may be flatter than average
  • There is sometimes a characterisitc crease across the palm of the babies hand, although this alone does not mean your baby has Down'

There are other characteristics, but as with every baby, Down Syndrome babies will be different from each other. Some characteristics are easy to recognise, while others may not be so obvious. An experienced doctor or midwife is usually very good at picking up subtle differences and may suggest that a blood test is done to check the chromosomes.

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