Assignment of X-linked hydrocephalus to Xq28 by linkage analysis

Patrick J. Willems, Irene Dijkstra, Bart J. Van der Auwera, Lieve Vits, Paul Coucke, Peter Raeymaekers, Christine Van Broeckhoven, Giacomo G. Consalez, Sallie B. Freeman, Stephen T. Warren, Oebele F. Brouwer, Han G. Brunner, Willy O. Renier, August F. Van Elsen, Jan E. Dumon

Research output: Contribution to journalArticlepeer-review


X-linked recessive hydrocephalus (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs. Prenatal diagnosis of affected males by ultrasonographic detection of hydrocephalus is unreliable because hydrocephalus may be absent antenatally. Furthermore, carrier detection in females is not possible because they are asymptomatic. Using four families segregating HSAS, we performed linkage analysis with a panel of X-linked probes that detect restriction fragment length polymorphisms. We report here that HSAS, in all tested families, is closely linked to marker loci mapping in Xq28 (DXS52, lod = 6.52 at θ of 0.03; F8, lod = 4.32 at θ of 0.00; DXS15, lod = 3.40 at θ of 0.00). These data assign HSAS to the gene-dense chromosomal band Xq28 and allow for both prenatal diagnosis and carrier detection by linkage analysis.

Original languageEnglish
Pages (from-to)367-370
Number of pages4
Issue number2
Publication statusPublished - 1990

ASJC Scopus subject areas

  • Genetics


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