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Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27



Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27



Human Molecular Genetics 3(1): 133-137



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 focus 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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Accession: 008991724

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PMID: 7909248


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