Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.

ABSTRACT:

Purpose

To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.

Methods

Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments.

Results

Medical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a

SUBMITTER: Sanchez Russo R 

PROVIDER: S-EPMC8105170 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature