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Five Novel Locations of Neocentromeres in Human: 18q22.1, Xq27.1∼27.2, Acro p13, Acro p12, and Heterochromatin of Unknown Origin

Klein E.a · Rocchi M.b · Ovens-Raeder A.c · Kosyakova N.a · Weise A.a · Ziegler M.a · Meins M.d · Morlot S.d · Fischer W.d · Volleth M.e · Polityko A.f · Ogilvie C.M.g · Kraus C.h · Liehr T.a
aInstitute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany; bDepartment of Biology, University of Bari, Bari, Italy; cPraxis für Humangenetik, München, dPartnerschaft, Hannover, eInstitute of Human Genetics, University Hospital, Magdeburg, Germany; fInstitute of Hereditary Diseases, Minsk, Belarus; gCytogenetics Department, Guy’s & St Thomas’ NHS Foundation Trust, London, UK; hInstitute of Human Genetics, Erlangen, Germany Cytogenet Genome Res 2012;136:163–166 (DOI:10.1159/000336648)


Since the first report in 1993, an ectopic centromere, i.e. neocentromere formation, has been reported in more than 100 small supernumerary marker chromosomes (sSMC), in 7 instances of centromere repositioning, and in about a dozen cases with more complex chromosomal rearrangements. Here we report 2 new cases with centromere repositioning and 3 neocentric sSMC consisting exclusively of heterochromatic material. Yet, no centromere formation was reported for the regions 18q22.1 and Xq27.1∼27.2 as it was observed in the 2 cases with centromere repositioning here; in both cases, cytogenetically an inversion was suggested. Two of the 3 neocentric sSMC were derived from a short arm of an acrocentric chromosome. The remainder neocentric sSMC case was previously reported and was stainable only by material derived from itself.


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