[Genetic transmission of Lowe's oculo-cerebro-renal syndrome in girl].
A girl who had all the clinical laboratory features of Lowe's syndrome is described. In the literature there are at least 5 other females recorded. They could arise by the preferential inactivation of the normal chromosome (lyon's hypothesis) or alternatively an autosomal dominant mode of inheritance with weak penetrance could be postulated.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D012737:Sex Factors
Syndrome oculo-cerebro-renal de lowe chez une fille discussion du mode de transmission genetique.