People with mosaic Down syndrome have a mixture of cells. Some have two copies of chromosome 21, and some have three. Mosaic Down syndrome occurs in about 2 percent of all Down syndrome cases. People with mosaic Down syndrome often, but not always, have fewer symptoms of Down syndrome because some cells are normal.
Can a baby have Down syndrome and not look like it?
Some of the children with Mosaic Down syndrome that we know do not actually look as if they have Down syndrome – the usual physical features are not obvious. This raises some important and difficult social issues and identity issues for both parents and children, which parents have discussed with us.
Can a child have a mild case of Down syndrome?
Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects. Children and adults with Down syndrome have distinct facial features.
Can a child go undiagnosed with Down syndrome?
The most common reason for this late diagnosis is the lack of knowledge in the medical field on this rare form of Down syndrome. However, many individuals can go undiagnosed up into adulthood and there are still thousands who never receive a diagnosis.
Do Down syndrome babies have big eyes?
Unusually Shaped Eyes
Many infants with down syndrome also have oddly shaped eyes in addition to discoloration in the eyes. An infant with down syndrome will commonly have eyes that slant upward, oftentimes with a fold of skin from the upper eyelid that covers one of the inner corners of the eye.
How soon can you tell if your baby has Down syndrome?
Diagnostic tests that can identify Down syndrome include: Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy.
What is it like to have a Down syndrome child?
In many important ways, children who have Down syndrome are very much like other children. They have the same moods and emotions, they like to learn new things, play, and enjoy life. You can help your child develop by providing as many chances as possible for him or her to do these things.
What is a mosaic baby?
When a baby is born with Down syndrome, the healthcare provider takes a blood sample to do a chromosome study. Mosaicism or mosaic Down syndrome is diagnosed when there is a mixture of two types of cells. Some have the usual 46 chromosomes and some have 47. Those cells with 47 chromosomes have an extra chromosome 21.
Can a Down syndrome diagnosis be wrong?
Prenatal misdiagnosis claims involving a Down syndrome child require a thorough investigation as to whether or not a medical provider was negligent. Mistakes in such cases include but are not limited to: Failure to take a competent and thorough genetic screening history of both parents.
Can the blood test for Down syndrome be wrong?
The standard testing produced 69 false positives for Down syndrome. The test was similarly more reliable for a related condition known as Edwards syndrome.
How can I tell if my toddler has Down syndrome?
Some common physical features of Down syndrome include:
- A flattened face, especially the bridge of the nose.
- Almond-shaped eyes that slant up.
- A short neck.
- Small ears.
- A tongue that tends to stick out of the mouth.
- Tiny white spots on the iris (colored part) of the eye.
- Small hands and feet.