What does mosaic Down syndrome look like?

What is mosaicism Down syndrome?

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. Mosaicism is usually described as a percentage.

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.”

Can Down syndrome baby look normal?

It varies, but people with Down syndrome often share certain physical traits. For facial features, they may have: Eyes shaped like almonds (may be shaped in a way that’s not typical for their ethnic group) Flatter faces, especially the nose.

Do mosaic embryos have birth defects?

When fertilized, a mosaic embryo sometimes mistakes in cell division occur and cause abnormal cell lines. If these abnormal cells persists, it can cause miscarriages or, in some rare occasions, serious birth defects.

Can someone with Down syndrome have normal intelligence?

I.Q. scores for people with Down syndrome vary, with the average cognitive delays being mild to moderate, not severe. In fact, normal intelligence is possible.

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Is Mosaic Down syndrome less severe?

However, people with mosaic Down syndrome may experience less severe effects of complications than people with 21 trisomy Down syndrome, according to a review in the American Journal of Medical Genetics.