Deletion of TOP3B Is Associated with Cognitive Impairment and Facial Dysmorphism.

ABSTRACT: Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome 22q11 but do not overlap, suggesting that a number of different genes contribute to the clinical features. Studies of patients with small deletions involving only 1 or 2 genes may provide more convincing evidence for the impact of individual genes on the observed phenotype. In this case report, we p

SUBMITTER: Kaufman CS 

PROVIDER: S-EPMC7343397 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature