title: [Mosaic phenotypes].
abstract: 1) Mosaicism results from the mutation in part of somatic cells after the fertilization, only a few cases occur due to mutation during meiosis. Mosaicism is characterized by genetic or functional difference of two or more cell lines in one individual from one zygote. 2) Phenotypical variety is high and depends on the proportion of cell lines of individual clones. 3) Clinical prognosis of mosaic individuum is better in comparison to the full mutation in all cells. 4) The genetic prognosis of reproduction in relatives of the mosaic individuum is without increased recurrent risk, genetic prognosis of own offspring depends on the moment of mutation occurrence--wheit occurs before day 16 to 20 when gonadal cells are differentiated, it represents high risk of transmission. 5) Diagnosis of mixoploids in some cases requests investigation of different cells (fibroblasts, lymphocytes). 6) Clinical "signal" features of the mosaic are hemihypertrophy, asymmetry, Blaschko lines, pigmentations. 7) Risk of malignant tumor is increased, similarly to other chromosomal aberrations, chromosomal instability or hamartomatoses. 8) Mosaics of gene mutation have usually normal mental development and are manifested by external abnormalities only. 9) Incidence of mosaic phenotypes is high and therefore the diagnosis of mixoploids and gene mosaic is important for the estimation of clinical as well as genetic prognosis.
authors.affiliation: Oddĕlení klinické genetiky Ustavu biologie a lékarské genetiky 2. LF UK, Praha. eva.seemanova@lfmotol.cuni.cz
authors.forename: E
authors.initials: E
authors.lastname: Seemanová
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D013577:Syndrome