Document Detail


Radiographic findings in liveborn triploidy.
MedLine Citation:
PMID:  2748230     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The detailed radiographic features of triploidy, a fatal congenital disorder with 69 chromosomes, have not previously been reported. Radiographs of ten liveborn infants with chromosomally confirmed triploidy showed six findings highly suggestive of this diagnosis: harlequin orbits, small anterior fontanelle, gracile ribs, diaphyseal overtubulation of long bones, upswept clavicles and antimongoloid pelvis. Sixteen other less specific findings showed many similarities to those found in trisomy 18.
Authors:
K G Silverthorn; C S Houston; D E Newman; B J Wood
Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article    
Journal Detail:
Title:  Pediatric radiology     Volume:  19     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  1989  
Date Detail:
Created Date:  1989-08-16     Completed Date:  1989-08-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  237-41     Citation Subset:  IM    
Affiliation:
Department of Radiology, University Hospital, Saskatoon, Saskatchewan, Canada.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  radiography*
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 18*
Female
Humans
Infant, Newborn
Male
Polyploidy*
Trisomy

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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