A balanced de novo X/autosome translocation in a girl with manifestations of lowe syndrome
- 1 March 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 23 (3), 837-847
- https://doi.org/10.1002/ajmg.1320230311
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.Keywords
This publication has 18 references indexed in Scilit:
- Two cases of X/autosome translocation in females with incontinentia pigmentiHuman Genetics, 1985
- Aarskog syndrome: Full male and female expression associated with an X‐autosome translocationAmerican Journal of Medical Genetics, 1984
- Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.Journal of Medical Genetics, 1983
- Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.Archives of Disease in Childhood, 1983
- Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophyNature, 1982
- Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocationHuman Genetics, 1982
- Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus.Journal of Medical Genetics, 1981
- Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.Journal of Medical Genetics, 1979
- Lowe's syndrome: identification of carriers by lens examination.Journal of Medical Genetics, 1976
- Renal function and morphology in a girl with oculocerebrorenal syndromeThe Journal of Pediatrics, 1970