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Panminerva Medica 2003 Dicembre;45(4):267-71

lingua: Inglese

Proteus syndrome and somatic mosaicism of the chromosome 16

Cardoso M. T. O. 1, Bunte del Carvalho T. 2, Casulari L. A. 3, Ferrari I. 4

1 Genetic and Morphological Department of Biological Science, UNB, Brasília, DF and Escola Superior em Ciências da Saúde, Brasília, DF, Brazil
2 Hospital da Rede Sarah, Hospitais de Doença do Aparelho Locomotor, Brasília, DF, Brazil
3 Escola Superior em Ciências da Saúde, Brasília, DF, Brazil
4 Genetic and Morphological Department of Biological Science, UNB, Brasília, DF Brtazil


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The ­authors ­describe clin­i­cal path­o­log­ic find­ings in a ­patient ­with a struc­tu­ral chro­mo­some 16 anom­a­ly in mosa­ic dis­tri­bu­tion ­with the phe­no­typ­ic char­ac­ter­is­tics of the Proteus syn­drome. This is the 1st ­report show­ing ­that the Proteus syn­drome may be asso­ciat­ed ­with a chro­mo­some 16 anom­a­ly; ­while pre­vi­ous find­ings sug­gest­ed ­that ­this syn­drome was asso­ciat­ed ­with a mod­ifi­ca­tion of chro­mo­some 1. As the path­o­log­ic hypoth­e­sis of ­this syn­drome pos­sibly ­involves ­lethal ­genes in somat­ic mosa­i­cism, respon­sible for con­trol of cel­lu­lar pro­life­ra­tion and/or alter­a­tion in the mech­a­nism of ­action of ­some ­growth fac­tors, chro­mo­so­mal alter­a­tions ­found in the ­patient ­described in ­this ­work may sug­gest the loca­tion of the ­genes ­involved in ­this syn­drome.

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