Resources and references


The Department of Human Genetics at the Medical College of Virginia/Virginia Commonwealth University has a very nice booklet on this topic that is available free of charge. Contact Dr. Colleen Jackson-Cook or Lauren Vanner at:

Dept of Human Genetics
Virginia Commonwealth University
P.O.Box 980033
Richmond, VA 23298-0033

The National Mosaic Down Syndrome Association is an organization devoted to support and research for Mosaic Down syndrome.


1.    Understanding the mechanism(s) of mosaic trisomy 21, by using DNA polymorphism analysis. Pangalos C et al. Am. J. Hum. Genet. 54:473-481, 1994.
2.    Mental Development in Down Syndrome Mosaicism. Fishler K and Koch R. Am. J. Mental Retardation 96(3):345-351, 1991.
3.    Medical Care in Down Syndrome, Rogers PT and Coleman M, Marcel Dekker, NY, 1992; p14-16.