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Table 1 Cytogenetic and a-CGH results on BM cells of SDS and MDS patients

From: Different loss of material in recurrent chromosome 20 interstitial deletions in Shwachman-Diamond syndrome and in myeloid neoplasms

Patient Karyotype FISH on mitosesa FISH on nucleia a-CGHb: 20q loss bpcposition (% abnormal cells)d
UPN 13 46,XY,del(20)(q11.21q13.32)[2]/46,XY[2] 9/21 (42.8%) 1 signal 184/366 (50.3%) 1 signal 30 876 455 – 57 739 561 bp (55%)
UPN 14 46,XY[49] 30/170 (17.6%) 1 signal 68/470 (14,5%) 1 signal 31 163 090 – 35 309 353 bp (18.2%)
UPN 17 46,XY,del(20)(q11.21q13.31)[5]/46,XY,der(20)del(20)(p)del(20)(q)dup(20)(q)[20]/46,XY[6] nae na 31 205 853 – 55 894 832 bp (46.9%)
UPN 20 46,XY,del(20)(q11.21q13.32)[18]/46,XY,der(20)del(20)(p)del(20)(q)dup(20)(q)[6]/46,XY[2] 9/10 (90%) 1 signal na 31 294 381 – 57 252 304 bp (66.5%)
UPN 65 46,XY,del(20)(q11.21q13.13)[6]/46,XY[13] 7/17 (41%) 1 signal 191/619 (30.8%) 1 signal 30 157 286 – 49 497 910 bp (43%)
UPN 68 46,XY,del(20)(q11.21q13.13)[2]/46,XY[14] na 82/612 (13.4%) 1 signal 31 262 228 – 43 141 564 bp 45 244 728 – 47 373 129 bp (15.9%)
MDS pt.f 46,XY,del(20)(q11.23q13.32)[7]/46,XY[4] 59/70 (84.3%) 1 signal 450/581 (77.4%) 1 signal 35 144 198 – 56 526 166 bp (65.2%)
  1. a1 signal indicates the presence of the del(20)(q); ba-CGH, array-based comparative genomic hybridization cbp, base pairs; devaluated by the formula suggested by Valli et al. [13]; ena, not available; fpatient with myelodysplastic syndrome (RCUD).