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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1994-5-23
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pubmed:abstractText |
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked gigantism syndrome characterized primarily by a coarse facies and somatic overgrowth which we have observed to be associated with an increased risk for embryonal tumors. Genetic linkage analysis for two SGBS kindreds in which X linked dominant inheritance was observed has been conducted for the X chromosome. The closest linkage to SGBS was observed for the Xq26 locus HPRT (Z max = 7.45, theta max = 0.00). SGBS-Xq marker recombinations map the disease locus to the DXS425-DXS1123 interval on Xq25-q27. This maps the disease locus to a region known to contain a previously characterized chromosomal translocation breakpoint found in a young girl with somatic overgrowth. This observation may have implications for the cloning of the SGBS gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0964-6906
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
3
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
133-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7909248-Base Sequence,
pubmed-meshheading:7909248-Blotting, Southern,
pubmed-meshheading:7909248-Chromosome Mapping,
pubmed-meshheading:7909248-DNA,
pubmed-meshheading:7909248-DNA Primers,
pubmed-meshheading:7909248-Female,
pubmed-meshheading:7909248-Genetic Linkage,
pubmed-meshheading:7909248-Genetic Markers,
pubmed-meshheading:7909248-Genotype,
pubmed-meshheading:7909248-Gigantism,
pubmed-meshheading:7909248-Heterozygote Detection,
pubmed-meshheading:7909248-Humans,
pubmed-meshheading:7909248-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:7909248-Male,
pubmed-meshheading:7909248-Molecular Sequence Data,
pubmed-meshheading:7909248-Pedigree,
pubmed-meshheading:7909248-Polymerase Chain Reaction,
pubmed-meshheading:7909248-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:7909248-Recombination, Genetic,
pubmed-meshheading:7909248-Syndrome,
pubmed-meshheading:7909248-Translocation, Genetic,
pubmed-meshheading:7909248-X Chromosome
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pubmed:year |
1994
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pubmed:articleTitle |
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.
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pubmed:affiliation |
Department of Biochemistry, University of Ottawa, Ontario, Canada.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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