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Toward a molecular description of proteus syndrome

Proteus Syndrome is a rare overgrowth syndrome in which tumors are a prominent feature. Proteus syndrome comprises an association of asymmetrical gigantism, verrucous epidermal naevi, vascular malformations, hamartomas and hyperostosis. There is no known molecular basis for this overgrowth syndrome but several reports have suggested abnormalities of chromosome 1 could play a role and the abnormal regulation of growth factors could also be important. / We obtained paired and unpaired DNA samples from seven cases of Proteus syndrome from Montreal and Greenwood Genetics Center, South Carolina. In all analyses, we compared simultaneously DNA from affected and unaffected areas from these children. Direct sequencing was used to look at somatic mutation or other alterations in growth, apoptosis or tumor suppressor genes, such as PTEN, GPC3 and CDKN1C. / A genome-wide, 10cM 388 marker microsatellite screen were performed to uncover putative somatic genomic microdeletions or other rearrangements by comparing the allelotype of the affected and unaffected tissues from Proteus syndrome patients.
Date January 2004
CreatorsThiffault, Isabelle
ContributorsFoulkes, William (advisor)
PublisherMcGill University
Source SetsLibrary and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada
Detected LanguageEnglish
TypeElectronic Thesis or Dissertation
CoverageMaster of Science (Department of Human Genetics.)
RightsAll items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated.
Relationalephsysno: 002141148, proquestno: AAIMQ98750, Theses scanned by UMI/ProQuest.

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