Publication: Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
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Dutly, F., & Schinzel, A. (1996). Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Human Molecular Genetics, 5, 1893–1898. https://doi.org/10.1093/hmg/5.12.1893
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Abstract
Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in ∼60% and paternal in 40% of cases. Segregation analysis of grandparental markers flanking the microdeletion region in WBS patients and their parents indicated that in the majority of cases a recombination between grandmaternal and grandpaternal chromosomes 7 at the site
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- Dutly, Fabrizio
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Dutly, F., & Schinzel, A. (1996). Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Human Molecular Genetics, 5, 1893–1898. https://doi.org/10.1093/hmg/5.12.1893
