The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications
作者： Cesare Danesino , Leda Dalprá , Claudia Dellavecchia , Orsetta Zuffardi , Giorgio Gimelli
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摘要: We studied 16 cases of 8p duplications, with a karyotype 46,XX or XY,dup(8p), associated mental retardation, facial dysmorphisms, and brain defects. demonstrate that these rearrangements can be either dicentric (6 cases) the second centromere at tip short arm monocentric (10 cases). The distal 8p23 region, from D8S349 to telomere, including defensin 1 locus, is deleted in all cases. region spanning D8S252 D8S265, proximal present single copy, remaining part abnormal 8 duplicated partially ones. edge duplication always spans up D8S552 (8p23.1), while its includes varies case analysis DNA polymorphisms indicates rearrangement consistently maternal origin. In only paternal alleles were patient. besides one allele, some loci showed two different alleles, others, which by FISH analysis, allele. hypothesize that, meiosis I, there was pairing chromosomes followed anomalous crossover regions delimited D8S35 D8S349, presumably contain inverted repeated sequences. resulting chromosome, 8qter-8p23.1(D8S552)::8p23.1-(D8S35)-8q ter, due presence centromeres, breaks anaphase generating an 8p, if breakage occurs it between centromeres.
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