Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

ABSTRACT:

Background

Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues.

Results

The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.

Conclusion

Conventional cytogenetics is the primary tool t

SUBMITTER: Rinaldi B 

PROVIDER: S-EPMC5387247 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature