Down Syndrome


What is Down Syndrome?

Down syndrome occurs when there is one extra copy of chromosome 21 in cells in the body. Down syndrome is one of the most common congenital chromosomal abnormalities named after the person who first described it. Dr. John Langdon Down was a doctor in London and in 1866 he was the first person to accurately describe the syndrome which today bears his name. In 1959. Professor Jerome Lejeune a doctor of genetics in Paris first identified the extra chromosome as being the cause of Down syndrome.

What is a syndrome?

A syndrome is a collection of several symptoms and signs that usually occur together.

Types of Down Syndrome:

There are three types of Down syndrome;

  • Trisomy 21 (95%) extra number 21 chromosomes in every cell
  • Translocation (3-5%) extra chromosome 21 is attached to another chromosome in every cell
  • Mosaic (1-2 %) mixture of cells, some with an extra chromosome 21 and normal cells.

Each baby is an individual and this is no different for the baby who has Down syndrome. Your baby will have his/her own personality and many family features and characteristics. He/she will be more like his/her family than like any other person with Down syndrome.

How do we know which form of Down syndrome our child has?

When a child with Down syndrome is born, or if Down syndrome is suspected, a chromosomal analysis is carried out (by blood tests) to confirm the diagnosis and determine the type of Down syndrome the child has.

Did I do anything to cause Down syndrome?

Down syndrome is never anyone’s fault. It just happens.

Is Down syndrome hereditary?

A very small percentage of all Translocation trisomies are inherited. About 1/100 cases of Down syndrome may be inherited. Parents whose child has this type of chromosomal abnormality should seek genetic counselling.

Can Down syndrome be cured?

Down syndrome is a lifelong condition and cannot be cured.

Do all babies with Down syndrome have a heart condition?

Approximately 47% of children with Down syndrome will have a heart condition.

Do all babies with Down syndrome have medical problems?

Having Down syndrome does not guarantee any medical condition. Most children with Down syndrome are healthy and active and will benefit from a variety of opportunities just like the other children in the family. However, children with Down syndrome have a higher incidence of many treatable health problems. Please see our Health section for more information.

What will my child be able to achieve?

Like any other child, babies with Down syndrome vary in their abilities and achievements so it is not possible to predict your baby’s abilities and future achievements at birth.

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