Triploidy (or Triploid Syndrome) is lethal and extremely rare. It occurs when there is a complete extra set of chromosomes. Instead of the normal 46 chromosomes (23 from each parent), there are 69 total. Two out of three triploidy-affected pregnancies miscarry in the first trimester. Those carried to term often result in stillbirth, although liveborn babies with triploidy have lived for a few hours to a few weeks.
Diploid Triploid Mosiacism occurs when some cells have three copies of each chromosome or the abnormal 69 chromosomes (triploid cells) while others have the normal two, for 46 chromsosomes (diploid cells). This mosiacism can be compatible with life, and is associated with assymetrical anatomical and facial features, low muscle tone (hypotonia), growth delays, webbed fingers or toes (syndactyly) and irregular pigmentation. Intellectual disabilities may be a factor, and may range from mild to severe.
For more information on Triploidy, visit:
- Rarechromo.org – Triploidy
- NORD – Triploidy Syndrome
- Healthline – Triploidy
For more information on Diploid Triploid Mosiacism, visit:
- Rare Diseases – Diploid Triploid Mosiacism
- NCBI – Diploid Triploid Mosiacism in Dysmorphic Patients