Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.

ABSTRACT: Chromosomal sub-microscopic imbalances, such as microdeletions and microduplications, are associated with multiple genetic disorders. Here, we illustrate microdeletion 3q13.33q21.2 might be responsible for neurodevelopmental disorder in two patients. There are two patients with neurodevelopmental disorder in a family of seven. We used chromosomal microarray analysis to identify the microdeletion 3q13.33q21.2. Next-generation sequencing was utilized to exclude the presence of allelic mutations within the microdeletion region 3q13.33q21.2, which may have a potential role in the development of disease in patients affected with secondary genetic alterations. Patient 4 was diagnosed with dilated left third ventricle, neurodevelopmental disorder, and mild abnormalities in electroencephalogram th

SUBMITTER: Huang YJ 

PROVIDER: S-EPMC11534423 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature