A Novel Distal 22Q11.21 Microduplication in a 43-Year-Old Male Patient with Mild Intellectual Disability, Social Cognitive Dysfunctions, and Anxiety.

ABSTRACT:

Objective

The chromosome region 22q11.2 is highly susceptible to genomic rearrangements. It has become clear that genomic instability extends distally to the commonly deleted/duplicated region (Low Copy Repeats [LCR] A-D) and that a clear difference exists between the phenotypic presentation of patients with rearrangements in the common region versus that in the distal region (LCR D-H), particularly with respect to developmental and somatic issues. Microdeletions in the 22q11.2 distal region are typically associated with congenital heart defects whereas distal 22q11.2 microduplications are infrequently described and present with a smaller duplicated region and a rather unspecified phenotype.

Method

The present paper provides detailed assessments of a middle-aged male with mi

SUBMITTER: Egger J 

PROVIDER: S-EPMC10712293 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature