"Double trouble" or an amplification of the triploidy phenotype

Kathrin Ludwig; Marco Pizzi; Matteo Fassan; Cecilia Daolio; Katia Margiotti; Federica Consoli; Roberto Salmaso; Massimo Rugge

doi:10.3109/15513815.2012.671444

"Double trouble" or an amplification of the triploidy phenotype

Kathrin Ludwig, Marco Pizzi, Matteo Fassan, Cecilia Daolio, Katia Margiotti, Federica Consoli, Roberto Salmaso, Massimo Rugge

IRCCS Casa Sollievo della Sofferenza

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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".

Original language	English
Pages (from-to)	60-65
Number of pages	6
Journal	Fetal and Pediatric Pathology
Volume	32
Issue number	1
DOIs	https://doi.org/10.3109/15513815.2012.671444
Publication status	Published - Feb 2013

Keywords

Heterotaxia
Polysplenia
Triploidy

ASJC Scopus subject areas

Pathology and Forensic Medicine
Pediatrics, Perinatology, and Child Health

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10.3109/15513815.2012.671444

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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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AU - Ludwig, Kathrin

AU - Pizzi, Marco

AU - Fassan, Matteo

AU - Daolio, Cecilia

AU - Margiotti, Katia

AU - Consoli, Federica

AU - Salmaso, Roberto

AU - Rugge, Massimo

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AB - 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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"Double trouble" or an amplification of the triploidy phenotype

Abstract

Keywords

ASJC Scopus subject areas

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