Ancient DNA Reveals Trisomy 13 in Nazca Infant
Key Points
- Skeletal anomalies included a single eye socket and conflicting dental versus bone age indicators.
- Formal burial suggests ancient Peruvians treated disabled infants with standard cultural respect.
- Findings published in PNAS provide rare historical data on congenital chromosomal disorders.
Editorial Deep Dive & Context
Researchers have identified the genetic cause of cyclopia in a female infant buried approximately 1,600 years ago in southern Peru. Discovered at the Jauranga site within a ceramic urn alongside another infant, the remains belong to the Middle Nasca period (325–440 CE).
The skeleton exhibited a single central eye socket and severe cranial abnormalities characteristic of this lethal condition, which occurs in roughly one in 100,000 births. Ancient DNA sequencing confirmed the presence of trisomy 13, a chromosomal abnormality where an extra copy of chromosome 13 disrupts brain development.
This finding resolves conflicting age estimates derived from skeletal analysis; while dental development suggested an age of two to four months, long bones indicated fetal size, implying the condition severely restricted growth or accelerated dental maturation. The study was published in PNAS by researchers including Lars Fehren-Schmitz and Elsa Tomasto-Cagigao. The discovery provides critical evidence regarding how ancient societies treated infants with severe congenital disabilities. Despite the rarity and lethality of the condition, the infant received formal burial rites similar to other children, suggesting social acceptance rather than abandonment.
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Ancient DNA Reveals Trisomy 13 in Nazca Infant
Ancient DNA analysis confirms trisomy 13 as the cause of cyclopia in a 1,600-year-old Nasca infant found in Peru