Document Detail

DNA fingerprinting: the utilization of minisatellite probes to detect a somatic mutation in the proteus syndrome.
MedLine Citation:
PMID:  1831169     Owner:  NLM     Status:  MEDLINE    
Syndromes with localized or segmental abnormalities have been proposed to be the result of a somatic mutation leading to the presence of somatic mosaicism in the tissue. The Proteus syndrome, with its hemihypertrophy, macrodactyly and exostoses, has features which would indicate that the phenotype results from such events. The success of utilizing DNA fingerprint probes to detect somatic mutations in cancer raised the possibility that a similar approach might be successful in an investigation of two patients with the Proteus syndrome. Single band differences were detected with the probe 33.6 in a pair of monozygotic twins discordant for Proteus and in a comparison of tissue from normal and affected areas in another patient. These findings would appear to confirm the hypothesis that the Proteus syndrome results from a somatic mutation. Furthermore, the results indicate that DNA fingerprinting may offer a valuable technique for identifying probes for investigations of similar syndromes.
C E Schwartz; A M Brown; V M Der Kaloustian; J J McGill; R A Saul
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  EXS     Volume:  58     ISSN:  1023-294X     ISO Abbreviation:  EXS     Publication Date:  1991  
Date Detail:
Created Date:  1991-09-19     Completed Date:  1991-09-19     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9204529     Medline TA:  EXS     Country:  SWITZERLAND    
Other Details:
Languages:  eng     Pagination:  95-105     Citation Subset:  IM    
Greenwood Genetic Center, S.C. 29646.
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MeSH Terms
Abnormalities, Multiple / genetics*
Child, Preschool
DNA Fingerprinting*
DNA Probes
DNA, Satellite*
Diseases in Twins
Foot Deformities, Congenital / genetics
Hamartoma / genetics
Hand Deformities, Congenital / genetics
Head / abnormalities
Reg. No./Substance:
0/DNA Probes; 0/DNA, Satellite

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