Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.

ABSTRACT:

Purpose

Duplication of chromosome 22q11.2 due to meiotic non-allelic homologous recombination results in a distinct syndrome, chromosome 22q11.2 duplication syndrome that has some overlapping phenotypic features with the corresponding 22q11.2 deletion syndrome. Literature on immunologic aspects of the duplication syndrome is limited. We conducted a retrospective study of 216 patients with this syndrome to better define the key features of the duplication syndrome.

Methods

Single-center retrospective record review was performed. Data regarding demographics, clinical details, and immunological tests were compiled, extracted into a predetermined data collection form, and analyzed.

Results

This cohort comprised 113 (52.3%) males and 103 (47.7%) females. The majority (54.6

SUBMITTER: Bhattarai D 

PROVIDER: S-EPMC11853716 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature