Trisomy 13 results from the presence of an extra chromosome 13, typically arising from meiotic non-disjunction during gamete formation. In mosaic trisomy 13, the extra chromosome is acquired post-zygotically. No known_genes data are present; standard Mendelian inheritance patterns do not apply.

Diagnostic method data are not captured in this packet. Active clinical research includes a study of circulating fetal cell-based non-invasive prenatal assessment (NCT07643896) and a study examining fetal bladder emptying as a marker for chromosomal abnormalities during first-trimester ultrasound (NCT07165743).

No disease-specific approved treatments are identified in this packet. Active trials include a physical activity and community empowerment project (NCT06740162) at the University of North Carolina. Trial interventions are categorized as other interventions with a mixed sponsor profile.

Natural history data are not captured in this packet. The condition definition documents severe psychomotor impairment and extensive structural anomalies across cardiovascular, neurological, and skeletal systems. Mosaic trisomy 13 may present with a more variable phenotypic range than complete trisomy 13; subtype-specific prognosis data are not available in this packet.

Three clinical trial records are documented in this packet; four active trials are noted in the condition's trial database. Research activity includes prenatal diagnostic development. The published literature includes 131 classified publications, dominated by case reports and case series (31 identified) and reviews (19). Biomarker-related publications are present. No gene therapy trials are documented for this condition.