ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD42 — Polyploidies
LD42.0 — Triploidy
ICD-11 LD42.0 — Triploidy
A disease caused by one additional set of chromosomes, for a total of 69 chromosomes. Triploidy can present with albuminuria, oedema, or hypertension in the mother. The fetus may present with microcephaly and a placenta that is enlarged and filled with cysts in the case of extra maternally inherited chromosomes, while extra paternally inherited chromosomes cause severe growth problems, an enlarged head, and a small placenta that does not have cysts. Non-mosaic triploidy is highly lethal, and is rarely observed in live births. Confirmation is through observation of an additional set of chromosomes by karyotyping.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.