| "Double Trouble" or an Amplification of the Triploidy Phenotype? | |
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MedLine Citation:
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PMID: 22515548 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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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Authors:
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Kathrin Ludwig; Marco Pizzi; Matteo Fassan; Cecilia Daolio; Katia Margiotti; Federica Consoli; Roberto Salmaso; Massimo Rugge |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-4-19 |
Journal Detail:
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Title: Fetal and pediatric pathology Volume: - ISSN: 1551-3823 ISO Abbreviation: - Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-4-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101230972 Medline TA: Fetal Pediatr Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Institute of Pathology, Department of Medical Diagnostic Sciences & Special Therapies , Padova , Italy. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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