Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: Mapping of the X chromosome breakpoint

O. T. Mueller, J. K. Hartsfield, L. A. Gallardo, Y. P. Essig, K. L. Miller, P. R. Papenhausen, T. A. Tedesco

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32 Citations (Scopus)

Abstract

A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, mental retardation, and proteinuria, is reported. A balanced X;20 chromosomal translocation with the X chromosome breakpoint at q26.1 was found with high-resolution trypsin-Giemsa banding. Somatic cell hybridization was used to separate the X chromosome derivative and the chromosome 20 derivative in order to position, with respect to the translocation breakpoint, several DNA loci that are linked to the Lowe syndrome locus (Xq24-q26). DXS10 and DXS53 were found to be distal to the breakpoint, whereas DXS37 and DXS42 were located proximal to it. These studies suggest that the OCRL locus lies in the region between these probes. The translocation chromosome originated from an unaffected male without a visible translocation, indicating that the most likely cause of OCRL in this patient is the de novo translocation that disrupted the OCRL locus.

Original languageEnglish
Pages (from-to)804-810
Number of pages7
JournalAmerican Journal of Human Genetics
Volume49
Issue number4
Publication statusPublished - Oct 1991
Externally publishedYes

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