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Triploidy

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Triploidy is a chromosomal abnormality with the constitution 69,XXY , or, less commonly, 69,XXX. It occurs in 2% of all conceptions with resulting early spontaneous abortion.

In most cases, the extra set of chromosomes is paternally-derived, either from double fertilisation, or from fertilisation with a double sperm.

Clinically, if the triploid fetus survives to term, the following may present:-

  • low birth weight
  • disproportionately small trunk to head size
  • syndactyly
  • multiple congenital abnormalities
  • large placenta with hydatidiform-like changes

The recurrence risk does not seem to be increased in affected parents.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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