"Double trouble" or an amplification of the triploidy phenotype?

Fetal Pediatr Pathol. 2013 Feb;31(1):60-5. doi: 10.3109/15513815.2012.671444. Epub 2012 Apr 19.

Abstract

Triploidy occurs in about 1 to 3% of clinically recognizable pregnancies and is typically associated with growth restriction, craniofacial dysmorphisms and congenital anomalies. We report the case of a female fetus with prenatal diagnosis of complete triploidy, polysplenia, bilateral cleft-palate, horseshoe-kidneys and bilateral club-feet. Whereas bilateral cleft-palate, horseshoe-kidneys and bilateral club feet are known to be part of the triploidy-associated malformation spectrum, polysplenia, which usually occurs as part of the heterotaxia spectrum, has never been associated with triploidy. An amplification of the triploidy phenotype or a "double trouble".

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Female
  • Heterotaxy Syndrome / genetics
  • Heterotaxy Syndrome / pathology
  • Humans
  • Phenotype
  • Pregnancy
  • Spleen / pathology*
  • Triploidy*
  • Ultrasonography, Prenatal