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 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.
How do you test for mosaicism?
How is Mosaicism Diagnosed? The usual way in which mosaic Down syndrome is discovered is through genetic testing of the baby’s blood. Typically, 20 to 25 cells are examined. If some of the cells have trisomy 21 and some don’t, then the diagnosis of mosaicism is made.
Can someone have Down syndrome and look normal?
Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems.
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.
How can a baby with Down syndrome also be diagnosed with mosaicism?
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.
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.