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Table 2 Patients with del(20)(q) as sole anomaly in BM: definition of the deletion by a-CGH (patients 1–8) or FISH (patients 11 and 12)

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

Patient Bands Deletion start (bp) Deletion stop (bp) % Abnormal cells
1 q11.21-q13.13 31,954,597 48,328,296 36%
3 q11.2-q13.2 31,720,622 53,559,811 26%
5 q11.21-q13.13 30,849,566 49,398,586 29%
6 q11.21-q13.13 30,889,915 47,912,299 74%
7 q11.21-q13.13 31,412,080 49,339,757 39%
8 q11.21-q13.32 31,671,222 57,911,624 36%
11 q11.22-q12a 5.6%b
12 q11.22-q12a 2.9%c
  1. The percentage of abnormal cells is calculated from a-CGH results, except for patients 11 and 12
  2. aResult obtained by double color FISH with the bac probes RP11-17F3 and RP11-29E13: the deletion therefore is at least from 33,797,020 to 40,857,566 bp
  3. b% from FISH results: 1/16 mitoses and 18/321 nuclei
  4. c% from FISH result: 9/309 nuclei