Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.

ABSTRACT:

Objective

Chromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated the deletion's impact on survival and its clinical manifestations in a large cohort of Chilean patients.

Design

Demographic and clinical data of individuals with 22q11 deletions diagnosed between 1998 and 2013 were collected from medical records and death certificates. Case fatality rate was calculated and compared with national vital statistics. OR with 95% CI analysis was used to assess the association between clinical manifestations and death.

Setting

Genetic services in tertiary care centres in Chile, following patients with 22q11.2 deletion.

SUBMITTER: Repetto GM 

PROVIDER: S-EPMC4225234 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature