Document Detail

Analysis of the spectrum of malformations in human fetuses of the second and third trimester of pregnancy with human triploidy.
MedLine Citation:
PMID:  11029886     Owner:  NLM     Status:  MEDLINE    
Triploidy is constituted by an extra haploid set of chromosomes for a total of 69 chromosomes in humans. A "parent-of-origin" effect has been demonstrated by analysis of cytogenetic polymorphisms of triploidy pregnancies. Two distinct phenotypes of human triploid fetuses have been recognized according to the parental origin of the extra haploid set. The first one or triploidy of diandric type occurs when the extra haploid set of chromosomes arises from the father, the second one or triploidy of digynic type occurs when the extra haploid set of chromosomes arises from the mother. Diandric fetuses appear relatively well grown with a large placenta, while digynic fetuses show intrauterine growth retardation with a small placenta. Autopsy archive data files (1982-1998) of the Institute of Pathology, University of Heidelberg (Germany) were examined for fetuses with triploidy. We found 12 well-studied triploid fetuses (gestational age: 20 to 32 weeks). Eleven fetuses corresponded to the digynic type of triploidy and one fetus corresponded to the diandric type of triploidy. The spectrum of external malformations included a dysmorphic face (broad root of the nose, exophthalmos, low-set ears, micro-/retrognathia, microgenia, median cleft lip and/or palate, gnathoschisis, macroglossia), encephalocele, spina bifida, syndactyly, club or rocker-bottom feet, pes equino-valgus. More common internal malformations included ventricular septum defect of the heart, abnormal lobation of the lungs, and renal disease (agenesis, cysts).
C Sergi; M Schiesser; S Adam; H F Otto
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pathologica     Volume:  92     ISSN:  0031-2983     ISO Abbreviation:  Pathologica     Publication Date:  2000 Aug 
Date Detail:
Created Date:  2000-11-28     Completed Date:  2000-11-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401123     Medline TA:  Pathologica     Country:  ITALY    
Other Details:
Languages:  eng     Pagination:  257-63     Citation Subset:  IM    
Institute of Pathology, University of Heidelberg, Germany.
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MeSH Terms
Abnormalities, Multiple / embryology*
Chromosome Aberrations / embryology*
Chromosome Disorders
Face / abnormalities,  embryology
Fetal Growth Retardation / etiology,  pathology
Genomic Imprinting
Gestational Age*
Limb Deformities, Congenital / embryology
Pregnancy Trimester, Second
Pregnancy Trimester, Third
Viscera / abnormalities,  embryology

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