Document Detail


Piecing together a picture of trisomy 8 mosaicism syndrome.
MedLine Citation:
PMID:  20093650     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Relatively few cases of trisomy 8 mosaicism syndrome (T8mS) are documented in the medical literature. It is a rare genetic condition characterized by extreme phenotypic variability--ranging from severe congenital malformations to minute dysmorphic changes. The authors describe a case of T8mS in a man aged 33 years who presented with lumbar spine herniated nucleus propulsus. This case features some of the classic characteristics of T8mS and suggests an association between T8mS and herniated disks.
Authors:
Nathan Edward Hale; James F Keane
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of the American Osteopathic Association     Volume:  110     ISSN:  1945-1997     ISO Abbreviation:  J Am Osteopath Assoc     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2010-01-22     Completed Date:  2010-05-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7503065     Medline TA:  J Am Osteopath Assoc     Country:  United States    
Other Details:
Languages:  eng     Pagination:  21-3     Citation Subset:  IM    
Affiliation:
Midwestern University/Arizona College of Osteopathic Medicine, Glendale, AZ 85308-6831, USA. nathan.hale@azweb.midwestern.edu
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics,  therapy
Adult
Chromosomes, Human, Pair 8*
Humans
Intervertebral Disk Displacement / diagnosis,  genetics*,  surgery
Karyotyping
Low Back Pain / diagnosis,  genetics
Lumbosacral Region
Male
Mosaicism*
Phenotype
Polyradiculopathy / diagnosis,  surgery*
Syndrome
Trisomy / diagnosis*

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


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