Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

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Figure 6.
Figure 6.

Haplotype analysis in three WBS families with parental CNVs We have performed the haplotype using polymorphic markers located centromeric (D7S672/653), within (BBSTR1c, D7S489B, CR16T, ELN, D7S1870, BBSTR1m), and telomeric (D7S2158) to the WBS locus. Parental haplotypes were inferred from the siblings’ genotypes, assuming no recombination. The presence of recombination between centromeric and telomeric in all three WBS cases indicates that the deletions arose as a result of interchromosomal meiotic NAHR.

This Article

  1. Published in Advance February 21, 2008, doi: 10.1101/gr.073197.107 Genome Res. 18: 683-694

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