Document Detail


Adrenoleukodystrophy (Siemerling-creutzfeldt disease): Heterozygote with two clonal fibroblast populations.
MedLine Citation:
PMID:  837560     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
On the fifth day after subcultivation,, fibroblasts of two unrelated patients with adrenoleukodystrophy (Siemerling-Creutzfeldt disease (SCD)) developed typical morphologic anomalies which could be seen by light microscopy. From skin biopsy material of an obligatorily heterozygous womam, both normal and morphologically defective colonies could be isolated. These findings suggest that the morphologic alterations are an expression of the defect in Siemerling-Creutzfeldt disease. Futhermore, they suggest that the SCD locus is subject to lyonization.
Authors:
H H Ropers; J Zimmermann; T Wienker
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  11     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1977 Feb 
Date Detail:
Created Date:  1977-04-28     Completed Date:  1977-04-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  114-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adrenal Cortex Diseases / genetics*
Adrenal Gland Diseases / genetics*
Cells, Cultured
Child
Cholesterol / metabolism
Diffuse Cerebral Sclerosis of Schilder / genetics*,  metabolism
Female
Fibroblasts / cytology,  metabolism
Heterozygote
Humans
Lipid Metabolism, Inborn Errors
Male
Syndrome
Time Factors
Chemical
Reg. No./Substance:
57-88-5/Cholesterol

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


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