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

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

Patient	Karyotype	FISH on mitoses^a	FISH on nuclei^a	a-CGH^b: 20q loss bp^cposition (% 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]	na^e	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%)

^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).

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