Document Detail


Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.
MedLine Citation:
PMID:  7693575     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A high frequency of spontaneous chromosomal breakage, endomitosis, endoreduplication and hypersensitivity toward both the alkylating agent Trenimon and the radiomimetric drug bleomycin was observed in phytohemagglutinin-stimulated peripheral lymphocytes from a girl with craniosynostosis, microcephaly, ptosis, bird-like facies, and moderate mental retardation. We also observed abnormal chromosomal spiralization and some aspects of abnormal cellular division. Several fruitless attempts were made to establish a cell line. The parents were consanguineous, supporting the existence of a new, rare, autosomal, recessive condition in man. The mutation might involve a gene involved in DNA repair and/or regulation of the mitotic cycle.
Authors:
N Tommerup; E Mortensen; M H Nielsen; R D Wegner; D Schindler; M Mikkelsen
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  92     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1993 Oct 
Date Detail:
Created Date:  1993-12-21     Completed Date:  1993-12-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  339-46     Citation Subset:  IM    
Affiliation:
John F. Kennedy Institute, Glostrup, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Adult
Bleomycin / adverse effects*
Chromosome Aberrations*
Consanguinity
Craniosynostoses / genetics*
DNA / biosynthesis
Drug Hypersensitivity / etiology,  genetics*
Female
Humans
Infant
Lymphocytes
Male
Microcephaly / genetics*
Mitosis / genetics
Multigene Family
Mutation*
Triaziquone / adverse effects*
Chemical
Reg. No./Substance:
11056-06-7/Bleomycin; 68-76-8/Triaziquone; 9007-49-2/DNA

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


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