title: "Double trouble" or an amplification of the triploidy phenotype?
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".
authors.affiliation: Institute of Pathology, Department of Medical Diagnostic Sciences & Special Therapies, Padova, Italy.
authors.forename: Kathrin
authors.initials: K
authors.lastname: Ludwig
authors.forename: Marco
authors.initials: M
authors.lastname: Pizzi
authors.forename: Matteo
authors.initials: M
authors.lastname: Fassan
authors.forename: Cecilia
authors.initials: C
authors.lastname: Daolio
authors.forename: Katia
authors.initials: K
authors.lastname: Margiotti
authors.forename: Federica
authors.initials: F
authors.lastname: Consoli
authors.forename: Roberto
authors.initials: R
authors.lastname: Salmaso
authors.forename: Massimo
authors.initials: M
authors.lastname: Rugge
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D005260:Female; D059446:Heterotaxy Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D010641:Phenotype; D011247:Pregnancy; D013154:Spleen / Q000473:pathology*; D057885:Triploidy; D016216:Ultrasonography, Prenatal