Ocular and Systemic Anomalies in an Infant With 4q Deletion and 3q Duplication: Case Report and Review of Literature.

Abstract

This is a case report of a female infant with two rare pathogenic chromosomal abnormalities: partial trisomy of chromosome 3 (3q25.2 to 3q29) and partial monosomy of chromosome 4 (4q34.1 to 4q35.2). A comprehensive evaluation and literature review revealed ocular and systemic malformations not previously described in association with either chromosomal aberration. Comparative genomic hybridization was performed to confirm the chromosomal abnormalities. A thorough literature search was conducted to contextualize the findings within existing knowledge of similar chromosomal aberrations. Genetic analysis revealed an unbalanced translocation between the long arms of chromosomes 3 and 4, resulting in partial trisomy of chromosome 3 (3q25.2 to 3q29) and partial monosomy of chromosome 4 (4q34.1 to 4q35.2). Ocular anomalies included nystagmus, epicanthus, lagophthalmos, entropion, megalocornea, corneal clouding, infantile glaucoma, high myopia, and retinal hyperpigmentation. The patient would undergo bilateral lower eyelid rotation and gonioscopy-assisted transluminal trabeculectomy procedures in the management of her congenital malformations. The distinct ophthalmic abnormalities observed represent novel features within the spectrum of partial trisomy three and partial monosomy four at the specified breakpoints. The literature search unveiled the previously documented features associated with genetic translocation and confirmed various novel features specific to our patient's phenotype. Further research will be essential to elucidate the genetic mechanisms underlying these ocular manifestations and their implications for the clinical management of cases. [J Pediatr Ophthalmol Strabismus. 2024;61(6):e66-e74.].