When a mother is told that her newborn son or daughter might have Down syndrome, a chromosome test is scheduled to confirm the diagnosis.
About 5% of families learn that their baby does not have garden variety Trisomy 21; they have one of two variations - Translocation or Mosaicism.
With Translocation the extra chromosome 21 has broken off and become attached to another chromosome. In Mosaicism, not all cells have Trisomy 21.
Many families of children with Mosaic or Translocation types of Down syndrome seek information and support from Down Syndrome advocacy organizations or parent support groups that of course welcome families of children with any of the three varieties.
Some families whose children have the Mosaic version of DS have become quite interested in any differences that may have been observed between their children and those who have the more typical type of Trisomy 21, as well as commonalities between children who have mosaicism.
In the mid-1990s, Dr. Colleen Jackson-Cook of the Virginia Commonwealth University's Department of Human Genetics published a booklet discussing results found in her ongoing research study on children with Mosaic Down Syndrome that addresses many parents' and medical professionals' questions and discusses other issues of interest.
This booklet can be requested from VCU's DHG department, and is also found on the web at http://www.mosaicdownsyndrome.com.
I understand that the research is ongoing, and updated information may be available. The booklet also includes basic information about Down syndrome that would be helpful for medical professionals, educators, extended family and friends.
Browse at your local bookstore, public library or online retailer for current information on Down Syndrome like: Down Syndrome - The First 18 Months DVD
Mosaic Down Syndrome - Information and Research
http://www.mosaicdownsyndrome.com
Dr. Len Leshin's excellent essay on Mosaic Down Syndrome can be found at
http://www.ds-health.com
USA Down Syndrome Organizations:
National Down Syndrome Society
National Down Syndrome Congress
Cape Cod Times
"We need to see America through Connor Gifford's eyes"
History Buff with Mosaic Down Syndrome
NPR show “This American Life” Act One 10-10-2008
Mother of Invention
Interview (2006) with mothers of Anton Sosnoski and Tim Colvin who have mosaic Down syndrome

















