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Updated: May 23, 2026

Manipulation of Ploidy in Caenorhabditis elegans
Published on: March 15, 2018
"Double trouble" or an amplification of the triploidy phenotype?
Kathrin Ludwig1, Marco Pizzi, Matteo Fassan
1Institute of Pathology, Department of Medical Diagnostic Sciences & Special Therapies, Padova, Italy.
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".
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