Identification of a neocentromere in a rearranged Y chromosome with no detectable DYZ3 centromeric sequence

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Abstract
An 18‐year‐old woman was evaluated because of primary amenorrhea and hypogonadism. Chromosome analysis from peripheral blood lymphocytes revealed a nonmosaic 46,X,+mar constitution. The marker was shown to be a rearranged Y chromosome consisting of an inverted duplication of the long arm: rea(Y)(qter‐q11::q11‐qter). Deletion mapping analysis with Y‐specific STS showed that the marker lacked Yp and Y‐centromeric (DYZ3) sequences, but it was positive for Yq sequences tested. Fluorescence in situ hybridization analysis with Y and X chromosome centromeric and pancentromeric probes showed no hybridization signals. The marker chromosome is present in 100% of the cells; therefore, it is mitotically stable despite the absence of DYZ3 centromeric sequence. Hybridization with CENP‐A and CENP‐C specific antibodies localized a neocentromere close to the breakpoint.
Funding Information
  • Conselho Nacional de Pesquisa e Desenvolvimento (CNPq)
  • National Institutes of Health (R01, GM61150)