A balanced de novo X/autosome translocation in a girl with manifestations of lowe syndrome

Abstract

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.