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Case Reports
. 1994 Feb;54(2):236-43.

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3

L Strain  1 , C M Gosden, D J Brock, D T Bonthron
Affiliations
Case Reports

Genetic heterogeneity in X-linked hydrocephalus: linkage to markers within Xq27.3

L Strain et al. Am J Hum Genet. 1994 Feb.

Abstract

X-linked hydrocephalus is a well-defined disorder which accounts for > or = 7% of hydrocephalus in males. Pathologically, the condition is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested the likelihood of genetic homogeneity for this condition, with close linkage to the DXS52 and F8C markers in Xq28. We have investigated a family with typical X-linked aqueductal stenosis, in which no linkage to these markers was present. In this family, close linkage was established to the DXS548 and FRAXA loci in Xq27.3. Our findings demonstrate that X-linked aqueductal stenosis may result from mutations at two different loci on the X chromosome. Caution is indicated in using linkage for the prenatal diagnosis of X-linked hydrocephalus.

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References

    1. Dev Med Child Neurol. 1975 Oct;17(5):633-40 - PubMed
    1. Nat Genet. 1992 Oct;2(2):107-12 - PubMed
    1. Dev Med Child Neurol. 1979 Oct;21(5):637-42 - PubMed
    1. Am J Hum Genet. 1984 Mar;36(2):460-5 - PubMed
    1. Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9 - PubMed

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