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Fig. 1 | Molecular Cytogenetics

Fig. 1

From: 13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

Fig. 1

13q mosaic deletion identified in the patient. (a) Identification in the patient of a mosaic 40 Mb deletion at 13q14.13q31.1 using Agilent CGH 400 K array. (b) Conventional cytogenetic analysis identified the chromosome del(13)(q14.13q31.1) carrying an interstitial deletion in 24% of the analyzed metaphases. (c) qPCR estimation (red oval shape) of the deletion mosaicism rate by using both deletion specific probes and a reference mosaic scale including different percentages of cells carrying a 13q deletion. (d, e) Commercial LSI13/21 probe yielded one hybridization signal specific for the RB1 locus at 13q14.2 (green) in ~ 35% and 0.4% of patient’s lymphocytes (d) and buccal cells (e), respectively (arrow), and two signals specific of chromosome 21 (red) in all the analyzed nuclei

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