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