Ring chromosome 6: A case report and literature review

Gonzales O.; Cano S.; Perez M.; Vallenas R.; Llancarí P.; Huertas E. · Journal of Gynecology Obstetrics and Human Reproduction (2026) · DOI: 10.1016/j.jogoh.2026.103164

Resumen

Summary Ring chromosome 6 is a rare structural chromosomal anomaly with a variable phenotype that includes growth restriction, congenital malformations, and neurological impairment. We present a term newborn female with a prenatal history of fetal growth restriction (FGR) and central nervous system malformations. At birth, she exhibited dysmorphic facies, bilateral corneal opacity, hypotonia, and a congenital heart defect. Cytogenetic analysis revealed a karyotype of 46,XX,r(6)(p25q27)[27]. The infant died on day 18 days of life due to a respiratory complication. Conclusions: Ring chromosome 6 is associated with high neonatal morbidity and mortality. Comprehensive prenatal ultrasound, cytogenetic evaluation, and multidisciplinary genetic counseling are essential for accurate diagnosis and informed reproductive counseling.

Instituciones: Universidad Nacional Mayor de San Marcos