Case Reports in Genetics / 2014 / Article / Fig 1

Case Report

An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis

Figure 1

(a) G-banded karyotype of the bone marrow cells showed a 46,X,idic(X)(q13)[4]/46,XX[16]. The arrow indicates the isodicentric X chromosome. (b) FISH analysis in metaphase cell with CEP X probe showed two centromeres on the idic(X), red signals. (c) Hybridisation on metaphase cell with WCP Xp (green signal) and WCP Xq probes (red signal) showed a normal X chromosome and an idic(X) with a red signal (Xq) between two green signals (Xp).

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