Ring Y chromosome: cytogenetic and molecular characterization |
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Authors: | Rolf-Dieter Wegner Gerd Scherer Marita Pohlschmidt Dagmar L'Allemand reas Gal |
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Affiliation: | Institut für Humangenetik, Freie Universit?t, Berlin, Germany. |
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Abstract: | A female patient with Turner syndrome and the karyotype mos45,X/46,X,r(Y)/46,XY is described. Physical mapping of the ring chromosome by Y-specific single-copy and moderately repeated DNA sequences as molecular probes showed that, in addition to the heterochromatic part of Yq, a considerable portion of the Yp has also been lost in the course of the rearrangement. Thus, molecular findings provide independent support that this structurally abnormal sex chromosome is a ring Y and agree with the generally accepted model of ring formation requiring breaks in both chromosome arms. Clinical consequences of Y chromosome mosaicism in patients with Turner syndrome are discussed. |
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Keywords: | chromosome aberrations cytogenetics molecular genetics ring Y chromosome Turner syndrome mosaic |
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