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Cryptic Mosaicism Study

The International Mosaic Down Syndrome Association (IMDSA) is excited to announce the launch of our mDs Pilot Study Initiative. This study will help families and individuals obtain a definitive diagnosis of mosaic Down syndrome which would otherwise go undetected.

Reason for the mDs Pilot Study

In a diagnosis of Down syndrome (Trisomy 21), an individual has three copies of the 21st chromosome present in every cell. In mosaic Down syndrome (mDs) an individual has a third copy of the 21st chromosome present in only a percentage of a their cells. This can cause individuals with mDs to receive an incorrect diagnosis, and potentially, no diagnosis at all.

An accurate diagnosis of mosaic Down syndrome is vital because it provides a greater understanding of the health and learning challenges that an individual may experience. More importantly, it allows for increased access to the services necessary for the individual with mosaic Down syndrome to thrive and to ensure potential health risks are monitored.

Most people with mosaic Down syndrome are diagnosed through routine chromosomal testing. However, mDs can be challenging to identify in people with a small percentage of cells with Trisomy 21. This challenge is present if a health provider utilizes the standard set of genetic tests conducted during post and/or pre-natal care on these individuals. People with mosaic Down syndrome can develop the same medical conditions as those individuals with Down syndrome including risks for heart problems, hypothyroidism, epilepsy, leukemia, digestive problems, mental and emotional problems, cognitive and social delays. Therefore, individuals without a diagnosis are at significant risk of not receiving the recommended medical attention advised for an individual with mosaic Down syndrome.

Pilot Study

Pilot Study Research Team

Dr. Colleen Jackson-Cook and her team, from Virginia Commonwealth University, will be leading the research for this study. Dr. Jackson-Cook’s qualifications include expertise and board certification in clinical cytogenetics and medical genetics (PhD). She has studied people with mosaic Down syndrome for over 29 years. Dr. Jackson-Cook has been a key partner, voice and advocate for many of the IMDSA’s initiatives. We are looking forward to building on our partnership with Dr. Jackson-Cook in this initiative.

Primary Goal for the Pilot Study

This Pilot Study will begin in April of 2017, and it will be ongoing. The primary study goal is to determine the percentage of children with undetected mosaicism in those individuals having traits similar to those seen in people with Down syndrome, but with previously normal chromosome test results. Information about the study and how to participate in this research is available here at  Inclusion Criteria for Pilot Study.

Our vision is that this study will improve the detection process and diagnosis of mosaic Down syndrome so that families, teachers, and doctors are empowered with more information and have better access to appropriate treatment and support.

Parent advocate and board member, Elvis Cabral, comments that “The IMDSA Board recognizes the fundamental need for this study. Families frequently contact us with questions about their child who is demonstrating developmental delays, and/or some physical characteristics consistent with Down syndrome.” He adds “It’s hard for these families to obtain an accurate diagnosis, and therefore they do not qualify for vital therapies, services and support system. We are very grateful for our research partners and our grass-roots membership support in making this endeavor a reality. This has the potential to positively impact many lives.”

Donation goal

Collected: $32,432.45
Goal: $10,000.00


 “We knew from the beginning there was something different about our son - he had developmental delays and some characteristics of Down syndrome. But when his initial genetic testing came back ‘normal’ – no one seemed to have any answers for us. His neurologist told us to ‘Just keep up with Early Intervention and hope for the best’ ,” said Megan Shoup, parent of a two-year-old with mDS whose diagnosis was missed by traditional chromosomal testing. “Having a diagnosis of mDS changed everything. Suddenly, we had a community of support and a new sense of identity. Most importantly though, a diagnosis allowed our son access to the most appropriate medical care and routine screenings all people with Down Syndrome should receive.”

International Mosaic Down Syndrome Association

PO Box 321, Grand Haven, MI, 49417
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