A note to families, caregivers, and people with 3q29 deletion syndrome as you advocate for care – this page was intended to help physicians coordinate the most appropriate care based on up-to-date research. It’s also here for you to read, download, and share with your health team as needed (download pdf for printing here).

The table below offers evidence-based recommendations for the evaluation and management of individuals with 3q29 deletion syndrome. This information was adapted from the manuscript “Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care,” published in the peer-reviewed journal Genetics in Medicine (see Sanchez Russo et al, 2021).

Developmental and cognitive evaluations may be performed by state agencies or school systems as well as by medical professionals. These entities may also provide recommendations, services, and interventions. Because the medical and educational systems often do not interact with one another, families sometimes will receive conflicting or contradictory information.

Communication is key: be sure to share with your physician the information you have received from other sources so that your medical team can incorporate this information as they develop a treatment plan.

Summary of Recommendations