Research Spotlight: Genetic Testing Practices, Indications and Results in Patients with Down Syndrome
Stephanie L. Santoro, MD, is the senior author of a recent study published in the American Journal of Medical Genetics, Part C.
Patient EducationFeb | 3 | 2013
Translocation Down syndrome happens when an extra copy of chromosome 21 is attached to another chromosome. This is then present in all cells of the body.
In translocation Down syndrome, an extra copy of chromosome 21 is attached to a different chromosome. For example, when an extra chromosome 21 is attached to chromosome 14, it looks like the picture below.
Translocation Down syndrome can happen one of two ways:
If the extra copy of chromosome 21 is inherited from a parent in the egg or sperm, it means that the parents “carry” this type of Down syndrome. These parents are said to have a “balanced translocation.” Balanced translocation happens when the correct amount of genetic material is present in the wrong location.
People with balanced translocations do not have any features of Down Syndrome. However, it is possible that they may have trouble getting pregnant.
Yes. Translocation Down Syndrome is the only type of Down Syndrome that can be passed down from a parent who does not have features of Down Syndrome.
Rev: 2/2013
This webpage is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.
Patient resources for the Down Syndrome Program.
Stephanie L. Santoro, MD, is the senior author of a recent study published in the American Journal of Medical Genetics, Part C.
Researchers found that limited English proficiency, a lack of health information translated into Spanish, and systemic racism often undermines care of patients with Down syndrome.
This study found that 78% of white families received early referrals to a Down Syndrome support group in Ohio compared to 9% of minority families.
Stephanie Santoro, MD, was the lead author of a recent article in the Journal of Pediatrics, titled Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic
Brian Skotko, MD, MPP, from the Mass General Down Syndrome Program and colleagues recently published a literature review in the European Journal of Human Genetics, titled Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021.
Researchers from Mass General for Children and colleagues have learned more about the effect of selective terminations on birth prevalence and population prevalence of people with Down syndrome in Australia and New Zealand.
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