Genome of ancient Individual with Cyclopia and trisomy 13

Cyclopia, the most severe craniofacial manifestation of alobar holoprosencephaly, is a rare and lethal congenital condition. While trisomy 13 is a major chromosomal cause, molecularly confirmed cases from ancient human remains are unknown. We examined two perinatal individuals from Burial 25 at Jauranga, a Nasca-period cemetery in southern Peru dating to about 325-440 CE. One infant, JA13a, showed severe craniofacial anomalies, including a single median orbital cavity indicative of Cyclopia. Ancient DNA revealed trisomy 13, confirmed by three independent methods. The co-buried infant had no skeletal malformations and was not maternally related. This case illustrates how ancient DNA, paleopathology, and mortuary context can shed light on congenital conditions and their cultural interpretations in the ancient Andes.