Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism?
The ostensibly normal parents of 27 probands with recessive or sporadic multiple malformation syndromes were reexamined. By means of careful investigations and anthropometric measurements in nine of them, morphologic variants were found that were compatible with the syndromes and were also observed in the proband. Although other factors should also be considered, the findings may be explained by germline and somatic mosaicism in the parents.
Department of Paediatrics, University Medical School, Pécs, Hungary.
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Méhes
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Kosztolányi
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005808:Genes, Recessive; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D010641:Phenotype