I.F.0.585 -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".
"Double Trouble" or an Amplification of the Triploidy Phenotype?
LUDWIG, KATHRIN;Pizzi M;FASSAN, MATTEO;SALMASO, ROBERTO;RUGGE, MASSIMO
2013
Abstract
I.F.0.585 -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".Pubblicazioni consigliate
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