Characteristics, Genetic Testing, and Management of 3q29 Recurrent Deletion

This report describes 3q29 recurrent deletion, the characteristics observed among those who have it, and recommendations for care. In this way, it echos what’s found in other reports.

This publication is a high-level summary intended for genetic counselors, pediatricians, and other medical caregivers. It’s also a useful introduction to the syndrome for anyone who wants to learn more.

What’s different here is that the researchers elaborate on the way a parent’s genes could contribute, even if the parent is unaffected. The role of genetic testing and counseling in family planning is also addressed. 

You can read the full paper here.