ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD42 — Polyploidies
LD42.1 — Tetraploidy

ICD-11 LD42.1 — Tetraploidy

A disease caused by two additional sets of chromosomes, for a total of 92 chromosomes. This disease commonly results in spontaneous abortion during the first trimester. Live births of tetraploidy individuals are very rare. These cases are characterised by facial dysmorphism, severely delayed growth and developmental delay. Confirmation is through observation of two additional set of chromosomes by karyotyping.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.