A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.
The Oculo-cerebro-renal syndrome of Lowe is an X-linked recessive disorder characterised by mental and growth retardation, renal rickets with renal tubular acidosis, generalised aminoaciduria, hypotonia, cataracts, glaucoma and frontal bossing. Manifestations of this syndrome were seen in a girl with no family history of the disorder, but who was found to have a de novo balanced X/3 translocation, with a breakpoint at Xq25. She had also inherited a balanced 14/17 translocation from her father. It is postulated that the clinical picture may be the result of disruption of the X chromosome within the gene at the locus for Lowe syndrome, with non-random inactivation of the normal X, which may permit the expression of this X-linked recessive disorder in a girl.
D002648:Child; D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome