Document Detail

Heterogeneity in Roberts syndrome.
MedLine Citation:
PMID:  7536395     Owner:  NLM     Status:  MEDLINE    
Roberts syndrome (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental delay, and limb anomalies. Some RS patients (RS+), but not others (RS-), have an abnormality of their constitutive heterochromatin (the "RS effect"). RS+ patients also show a cellular hypersensitivity to DNA damaging agents such as mitomycin C (MMC). Lymphoblastoid cell lines from 2 unrelated RS+ patients were fused and hybrid cells examined for correction of the RS effect and MMC hypersensitivity. Neither cellular defect was corrected in the 2 hybrid cell lines examined, suggesting that these 2 patients represent a single complementation group. Fusions were also performed between one RS+ cell line and 2 different RS- cell lines. In both fusions, the hybrids demonstrated correction of both the heterochromatin abnormality and MMC hypersensitivity. These observations suggest that RS+ and RS- patients belong to different complementation groups and do not arise from the same single gene mutation.
D J Allingham-Hawkins; D J Tomkins
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  55     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Jan 
Date Detail:
Created Date:  1995-05-12     Completed Date:  1995-05-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  188-94     Citation Subset:  IM    
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
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MeSH Terms
Abnormalities, Multiple / genetics*
Cell Line
Developmental Disabilities / genetics
Genetic Heterogeneity*
Growth Disorders / genetics
Hybrid Cells
Infant, Newborn
Limb Deformities, Congenital
Lymphocytes / cytology,  drug effects
Mitomycin / pharmacology
Reg. No./Substance:

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