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Table 1 Patients with more than one clonal anomaly in BM, either in the same sample or in samples drawn in different years

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

Patient Sample Anomaly 1st clone—bands and DNA bp (% cells) Anomaly 2nd clone—bands and DNA bp (% cells)
2 2009 del(20)(q11.21q13.13) 30,733,183–49,339,757 bp (43%) del(20)(q11.22q11.23) 33,148,327–36,779,644 bp (23%)a
4 2010 del(20)(q11.21q13.13) 31,954,597–49,216,901 bp (17%)b
dup(20)(q13.32–q13.33) 58,349,436–60,320,956 bp (19%)b
dup(3)(q24q29) 143,044,212–195,076,511 bp (34%)b
9 2009 del(20)(q11.21q13.32) 30,876,455–57,739,561 bp (55%)
2017 del(20)(q11.21q13.13) 30,904,022–49,344,382 bp (52%)
10 2009 i(7)(q10) (24%)c
2017 i(7)(q10) (16%)c,d del(7)(p21.3pter) (10%)d
13 2018 del(20)(q11.22q11.23) 32,738,995–34,468,385 bp (35%) del(20)(q11.2q13)e 2 out of 6 mitoses
14 2017 del(20)(q11.21q12) 31,814,242–40,237,993 bp (12%)b
dup(20)(q11.33) 58,725,726–61,314,465 bp (18%)b
2019 del(20)(q)f del(20)(q)f
  1. Chromosomal anomalies were defined by a-CGH except where noted otherwise. The percentage of abnormal cells is calculated from a-CGH results, except for the 2nd clone of patient 13 and the 2019 sample of patient 14
  2. aThis percentage refers only to the 2nd clone b The anomalies may be in independent clones or associated in a single clone
  3. ca-CGH results showed monosomy of the entire short arm and trisomy of the entire long arm
  4. dThe anomalies were in two independent clones, as shown by FISH (Fig. 1c, d, e)
  5. eResult of chromosome analysis
  6. fTwo clones with different del(20)(q), as shown by double color FISH with two different probes identifying different regions of chromosome 20 long arm (Fig. 3 D)