Genetic hetergoeneity in X-linked hydrocephalus: Linkage to markers within Xq27. 3

Journal Article · Tue Feb 01 04:00:00 EST 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6975238

Strain, L; Brock, D J.H.; Bonthron, D T ^[1]; Gosden, C M ^[2]

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1. Univ. of Edinburgh (United Kingdom)
2. Western General Hospital, Edinburgh (United Kingdom)

X-linked hydrocephalus is a well-defined disorder which accounts for [ge]70% of hydrocephalus in males. Pathologically, the conditions is characterized by stenosis or obliteration of the aqueduct of Sylvius. Previous genetic linkage studies have suggested likelihood of genetic homogeneity for this condition, with close linkage to the DXS52 and F8C markers in Xq28. The authors 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. The 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. 43 refs., 2 figs., 2 tabs.

• OSTI ID: 6975238
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BODY
BRAIN
CENTRAL NERVOUS SYSTEM
CHROMOSOMES
GENETIC MAPPING
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
MALFORMATIONS
MAPPING
NERVOUS SYSTEM
ORGANS
PATHOLOGICAL CHANGES
X CHROMOSOME