Document Detail


18q-mosaicism associated with Rett syndrome phenotype.
MedLine Citation:
PMID:  8484399     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Rett syndrome consists of a characteristic progressive encephalopathy in females. The cause of this syndrome is unknown. We present a patient with 18q-mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet clinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome.
Authors:
K Gordon; V M Siu; F Sergovich; J Jung
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  46     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Apr 
Date Detail:
Created Date:  1993-06-01     Completed Date:  1993-06-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  142-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 18*
Female
Humans
Mosaicism*
Phenotype
Rett Syndrome / genetics*,  pathology
X Chromosome

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


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