What is Down syndrome?

A syndrome is a collection of symptoms and signs that usually occur together and are characteristic of a particular condition. 

There are three types of Down syndrome: 

• Trisomy 21 (95%): an extra copy of chromosome 21 is present in every cell 

• Translocation (3-5%): an extra copy of part or all of chromosome 21 is attached to another chromosome 

• Mosaic (1-2 %): some cells have an extra copy of chromosome 21, so have 47 chromosomes, while other cells have the usual 46 chromosomes. 

Every person with Down syndrome has an extra copy of chromosome 21 in some or all of their cells. 

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. 

No. Down syndrome is a genetic condition. The genetic difference occurs when the baby is conceived, and is not the result of any actions during pregnancy. 

Usually not. A very small percentage of cases of Down syndrome may be inherited. Parents should ask their GP or paediatrician if they consider genetic counselling might be advisable.

Down syndrome is a lifelong condition and cannot be cured, however with the right medical, therapeutic and educational supports, your child’s abilities can be nurtured.  

People with Down syndrome, whatever their age, are people first, with abilities, strengths and weaknesses like everyone else. They will need additional support, but this doesn’t prevent people with Down syndrome all over the world leading full and independent lives. The quality of health care, education and community support provided to children and adults with Down syndrome can make a real difference to their quality of life. 

Down syndrome is a chromosomal anomaly that affects the whole body. This means that there are some medical issues that are more common in babies who have Down syndrome than in other babies. There are also some conditions that are less common. 

Talk to your GP or paediatrician if you have any concerns about your baby’s health or development as they will be the best person to reassure you or check for any health issues. You can also phone Fiona McGrane, clinical nurse specialist on fiona@downsyndrome.ie or look in our health section for more information. 

Many people who have Down syndrome lead active and healthy lives and most conditions associated with the syndrome can be treated or managed. 

Like any other child, children with Down syndrome vary in their abilities and achievements. Nobody can tell you what your child can and will achieve. All we know is that there are thousands of people in Ireland with Down syndrome who have accomplished and continue to accomplish, many great things. 

We promote the use of Person First language at all times.  To use person first language, simply say the person’s name or use a pronoun first, follow it with the appropriate verb, and then state the name of the disability. When referring to an individual, always describe them as a person with Down syndrome. The correct terminology is capital “D” for Down and small “s” for syndrome e.g. Joe Bloggs is a person with Down syndrome. 

References to “a Downs” / “Down syndrome person” are no longer in use. Using person first language shifts our focus from the disability to the person who has dignity, feelings and rights. This subtle but powerful language shift helps us view people with disabilities as capable and deserving of respect.