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Molecular And Cytogenetic Characterization Of De Novo Acrocentric Rearrangements In Humans, Lisa Gail Shaffer

Theses and Dissertations

I have studied 26 children who have a de novo rearrangement of the acrocentric chromosomes in order to understand the formation of these aberrations. The families include '25 probands ascertained for Robertsonian-type translocations, 13 between nonhomologous chromosomes and 12 between homologs, and one rea(21;21)(q22;q22). The parental origins of the de novo rearrangements were determined in 26/26 families using QFQ and NOR variants and/or RFLP analyses. While there was no overall difference in the sex distribution of the parents of origin, there were more maternally derived nonhomologous ("true" Robertsonian) translocations (8 mat: 5 pat) and more paternally derived homologous rearrangements (4 …