Frequent question: Can you have mosaic Down syndrome and not know it?

Approximately 15% of individuals diagnosed with Trisomy 21 Down syndrome are misdiagnosed and actually have mosaic Down syndrome. There are many individuals who are never diagnosed with this condition.

Can Mosaic Down syndrome go undiagnosed?

Mosaic Down syndrome is quite often undiagnosed and the average age for this diagnosis is 1-4 yrs. We hope that with this episode many more will get diagnosed to help with not only developmental delays, but more importantly the health risks associated with mosaic Down syndrome.”

How do you know if you have mosaic Down syndrome?

Mosaic Down syndrome symptoms

  1. slower speech.
  2. lower IQ.
  3. a flattened face.
  4. small ears.
  5. shorter height.
  6. eyes that tend to slant up.
  7. white spots on the iris of the eye.

Can you have Down syndrome without looking 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 you have a mild form of Down syndrome?

Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe.

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How many cases of Down syndrome go undetected?

“Major heart defects go unnoticed until birth an astounding 70% of the time,” Sanghavi writes, adding that 75% of “babies with missing limbs come as a surprise to both doctors and patients,” and more than 50% of Down syndrome cases are undetected before birth.

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.