Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion.

ABSTRACT:

Background

Intrachromosomal insertion is a rare form of structural chromosomal rearrangement that often cannot be accurately delineated by conventional G-banding, making it difficult to predict reproductive outcomes. In clinical practice, such insertions are often misinterpreted as inversions or remain undetected, leading to recurrent segmental imbalances in offspring. We aimed to characterize an unresolved structural rearrangement identified in a family and to clarify its reproductive implications through advanced cytogenetic and molecular analyses.

Methods

Cytogenetic and molecular studies were conducted in a family where the proband exhibited a 17.8 Mb duplication at 9q21.31-q22.33. Although G-banding suggested a parental structural abnormality, its configuration could no

SUBMITTER: Kawamura R 

PROVIDER: S-EPMC12914905 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature