22q11.21 Deletions: A Review on the Interval Mediated by Low-Copy Repeats C and D.

ABSTRACT: 22q11.2 is a region prone to chromosomal rearrangements due to the presence of eight large blocks of low-copy repeats (LCR22s). The 3 Mb 22q11.2 "typical deletion", between LCR22-A and D, causes a fairly well-known clinical picture, while the effects of smaller CNVs harbored in this interval are still to be fully elucidated. Nested deletions, flanked by LCR22B-D, LCR22B-C, or LCR22C-D, are very rare and are collectively described as "central deletions". The LCR22C-D deletion (CDdel) has never been separately analyzed. In this paper, we focused only on CDdel, evaluating its gene content and reviewing the literature and public databases in order to obtain new insights for the classification of this CNV. At first glance, CDdels are associated with a broad phenotypic spectrum, ranging from cli

SUBMITTER: Bertini V 

PROVIDER: S-EPMC11764475 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature