Presenting Characteristics and Medical Conditions in 67 Cases With Trisomy 9 Mosaicism.

Abstract

Limited literature exists on cases diagnosed with trisomy 9 mosaicism. In addition to case studies and small "n" studies, the Tracking Rare Incidence Syndromes (TRIS) project has provided results for 39 cases from a parent registry. This article provides data for 67 additional cases from the TRIS project database. Results describe physical characteristics and an overview of presenting medical conditions, including cardiac anomalies along with feeding and respiratory difficulties in the immediate postnatal period. Data are largely aligned with previous findings. Future research is needed to confirm the findings. Implications are offered for collaboration for care and management with parents and caregivers.