Clinical Characterization and Cytogenetic-Molecular Study of a Patient with a Ring Chromosome 12.

ABSTRACT:

Introduction

Ring chromosomes generally result from the fusion of breaks at the ends of both arms of a chromosome, typically leading to the loss of genetic material from these ends.

Case presentation

We report the case of a four-year-old patient who exhibits multiple café-au-lait spots, hypochromic spots, bitemporal narrowing, bilateral epicanthus, patent foramen ovale, and multiple brain abnormalities identified through magnetic resonance imaging. Karyotyping revealed a ring chromosome: r(12). Chromosomal microarray analysis revealed a ∼3.6 Mb deletion in the short arm and a ∼1.2 Mb deletion in the long arm of chromosome 12. The patient's phenotype is consistent with these genetic imbalances. To investigate ring chromosome instability and mosaicism, 200 metaphases were anal

SUBMITTER: da Nobrega VA 

PROVIDER: S-EPMC12052353 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature