Further delineation of 2p13.2-p11.2 deletion syndrome by optical genome mapping.
Flavia Privitera, Stefano Pagano, Giulia Nutile et al.
✦ AI-curated · Sources linked
Case in brief
A patient with a de novo heterozygous deletion of 2p13-p11.2 was identified through array CGH and further characterized using optical genome mapping. Clinical findings were compared with existing literature on similar deletions, revealing overlapping phenotypes. The study suggests that genes like TET3 and CCT7 may contribute to the clinical features of this contiguous multigenic deletion syndrome.
Diagnostic / clinical pearl
Clinicians should consider the potential for overlapping clinical features in patients with deletions in the 2p chromosomal region, particularly when evaluating cases of contiguous multigenic deletion syndromes.
Why it matters
Understanding the genetic basis and clinical implications of 2p deletions can aid in accurate diagnosis and management of affected individuals.