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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations

Fig. 2

Patients with del(20)(q) as sole anomaly: a-CGH profiles of six patients (a), and FISH results on nuclei with probes RP11-29E13 (red signal), which includes the EIF6 gene, and RP11-17F3 (green), localized in band 20q12. Patient 11, with one single signal of both probes (b), indicating a large deletion; Patient 12, with one normal nucleus with two signals of both probes and one nucleus with one signal for both probes (large deletion) (c). The precise definition of the deletions is in Table 2

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