Publication: Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion
Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion
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Robinson, W. P., Waslynka, J., Bernasconi, F., Wang, M., Clark, S., Kotzot, D., & Schinzel, A. (1996). Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion. Genomics, 34, 17–23. https://doi.org/10.1006/geno.1996.0237
Abstract
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The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding ELN to define the extent of deletions associated with WBS. With only one exception, ELN, D7S1870, and one copy of the D7S489 locus (D7S489U) were always included in the deletions. One patient showed lack of maternal inherit
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- Robinson, Wendy P
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Robinson, W. P., Waslynka, J., Bernasconi, F., Wang, M., Clark, S., Kotzot, D., & Schinzel, A. (1996). Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion. Genomics, 34, 17–23. https://doi.org/10.1006/geno.1996.0237
