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An unusual dicentric Y chromosome with a functional centromere with no detectable alpha-satellite
Authors:Nenad Bukvic  Francesco Susca  Mattia Gentile  Emanuele Tangari  Achille Ianniruberto  Ginevra Guanti
Affiliation:(1) Cattedra di Genetica Medica, c/o Medicina del Lavoro, Piazza G. Cesare, I-70124 Bari, Italy;(2) IRCCS Castellana, Bari, Italy;(3) Divisione di Ostetricia e Ginecologia, Ospedale M. Sarcone, Terlizzi, Italy
Abstract:We describe an unusual marker chromosome Y. This marker is present in 5% of the lymphocytes of a dysgenetic woman showing a mosaic karyotype 45,X/46,XY/ 47,XY+mar. Q-banding revealed that the marker was morphologically identical to the Y chromosome of the patient but presented the primary constriction in the heterochromatic region. C-banding confirmed that the heterochromatic region was C-positive; furthermore, it showed two spots in the euchromatic region in a position corresponding to that of the centromere in the normal Y Fluorescence in situ hybridization with the centromere-specific probe pDP 97 and the pancentromeric alpha-satellite probe agr27agr30 failed to detect any signal at the primary constriction site. To improve the characterization of the marker chromosome, hybridization was performed using pDP 105, a probe located on the short arm of the Y chromosome, together with chromosome-Y- specific paint-hybridizing to the single sequence spanning the Y short arm. In both cases, positive signals telomeric to the inactive centromere were observed. Possible mechanisms resulting in the formation of the marker chromosome are discussed.
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