Proteus syndrome and somatic mosaicism of the chromosome 16.
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.
Cardoso
M T
MT
Genetic and Morphological Department of Biological Science, UNB, Brasília, DF and Escola Superior em Ciências da Saúde, Brasília, DF, Brazil. roxomotta@ambr.com.br
de Carvalho
T Bunte
TB
Casulari
L A
LA
Ferrari
I
I
D002648:Child; D002869:Chromosome Aberrations; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D016715:Proteus Syndrome / Q000235:genetics* / Q000473:pathology