The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- ISOCHROMOSOMES (Non Malignant)

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 2225528_3_2 46, XY, der(2)t(2;7)(q37.3;q11.1), i(7)(p10) de novo patent ductus arteriosus, pulmonary insufficiency, large anterior fontanel, minor facial anomalies, postaxial polydactyly, developmental delay p10       2225528, 7702099, 10494083 case 3 (BWIS#2074) [2225528], case 2 [10494083] trisomy of 7p Edit
2 8759887_2 46, XY [10]/ 46, XY, i(7)(q10) [20] [Age 2]
46, XY [6]/46, XY, i(7)(q10) [24] [Age 4]
Shwachman-Diamond syndrome, refractry anemia q10       8759887, 9766504, 12472589 2 [8759887], 4 [9766504]   Edit
3 12472589_A2 46, XX [20] [09/06/97 at diagnosis]
46, XX, i(7)(q10) [3]/ 46, XX [17] [13/04/98]
46, XX, del(20)(q11) [4]/46, XX [18] [05/05/98]
46, XX, del(20)(q11) [6]/46, XX [44] [09/03/99]
46, XX [30] [at transplant]
Shwachman-Diamond syndrome, neutropenia q10   D7Z1/ WBSCR1   12472589, 15474150 A2 sibling of 12472589_A1 Edit
4 12472589_B1 46, XX, i(7)(q10) [31] [12/03/93, at diagnosis]
46, XX, i(7)(q10) [31] [04/03/98]
Shwachman-Diamond syndrome, refractory anemia q10       12472589, 15474150 B1 sibling of 12472589_B2 Edit
5 12472589_B2 46, XX, i(7)(q10) [19]/ 46, XX [15] [05/04/94, at diagnosis]
46, XX, i(7)(q10) [18]/ 46, XX [2] [05/11/00]
Shwachman-Diamond syndrome, refractory anemia q10       12472589, 15474150 B2 sibling of 12472589_B1 Edit
6 12472589_C1 46, XY, i(7)(q10) [13]/ 46, XY [2] [04/10/99, at diagnosis] Shwachman-Diamond syndrome, neutropenia, thrombocytopenia, anemia, pancytopenia q10       12472589, 15474150 C1   Edit
7 12472589_D2 46, XX [20] [20/03/96, at diagnosis]
46, XX, i(7)(q10) [6]/46, XX [18] [08/12/98]
46, XX, i(7)(q10) [5]/46, XX [55] [26/04/00]
Shwachman-Diamond syndrome, pancytopenia q10       12472589, 15474150 D2 sibling of 12472589_D1 Edit
8 12472589_E 46, XY, i(7)(q10) [10] [10/08/98, at diagnosis]
46, XY, i(7)(q10) [9] [18/01/00]
Shwachman-Diamond syndrome, neutropenia, thrombocytopenia q10       12472589, 15474150 E   Edit
9 9074418_UPN2175 46, XX, i(7q) [6]/ 46, XX [14] Shwachman-Diamond syndrome q10       9074418, 12472589, 15474150 UPN 2175   Edit
10 9603415_2_1 45, XY, -7/ 46, XY, i(7)(q10) Shwachman-Diamond syndrome, refractory anemia, short stature, growth hormone deficiency, metaphyseal chondroplasia developed marrow hypoplasia q10       9603415, 9766504, 12472589, 15474150, 16382447 case 2 [9603415], 15 [9766504], 3 [16382447]   Edit
11 9637427 46, XY, i(7)(q10) Shwachman-Diamond syndrome, severe intermittent neutropenia, moderate thrombocytopenia, exocrine pancreatic dysfunction, duplication of distal thumb phalanx q10       9637427, 9766504, 16382447 case 1 [9766504], 2 [16382447] Mitelman Database, Reference No. 7739 Edit
12 9766504_2 46, XY, del(20)(q11)/ 46, XY, i(7)(q10)/ 46, XY Shwachman-Diamond syndrome, refractory multilineage cytopenia with myeloid lineage dysplasia q10       9766504 case 2 Mitelman Database, Reference No. 7739 Edit
13 3391618_2 46, XX, i(7)(q10) [12] [May/13/92]
46, XX, i(7)(q10) [17] [Jun/30/92]
46, XX, i(7)(q10) [30][Dec/02/9 7]
Shwachman syndrome, exocrine pancreatic insufficiency, persistent neutropenia q10       3391618, 11063802, 15474150, 16382447 case 2 (M.L.) [11063802], 5 [16382447] sib diagnosed with Shwachman syndrome had normal karyotype Edit
14 3983641_1_2 46, XX, t(7;14)(q35;q11)/ 46, XX, t(7;14)(p13;q11)/ 46, XX, i(7q)/ 46, XX, inv dup(7)(q35) [PHA-stimulated ] immunodeficiency, growth failure, undefined chromosome fragility syndrome q10       3983641 case 1   Edit
15 12217199 46, XY, i(7)(q10) [8]/ 46, XY [1] [age 5]
46, XY, i(7)(q10) [3]/ 46, XY, del(20)(q11.2) [4]/ 46, XY [8] [age 11]
46, XY, i(7)(q10) [7]/ 46, XY, del(20)(q11.2) [3]/ 46, XY [7] [age 14]
Shwachman-Diamond Syndrome, no leukemic signs at age 14 (last seen) q10       12217199, 16382447 7 [16382447]   Edit
16 15474150 46, XX, i(7)(q10) [26]/ 46, XX [57] Shwachman-Diamond syndrome, neutropenia, thrombocytopenia, q10       15474150 LAS   Edit
17 12135662_1 46, XY, i(7)(q10) [7] [1997]
46, XY, i(7)(q10) [3]/ 46, XY [47] [2001]
Shwachman-Diamond syndrome, anemia, neutropenia, thrombocytopenia q10       12135662, 15474150 UPN1 Mitelman Database, Refenrece No. 9782 Edit
18 12135662_2 46, XY, del(20)(q?) [11]/ 46, XY, i(7)(q10) [2]/ 46, XY [7] [1997]
46, XY, del(20)(q?) [19]/ 46, XY, i(7)(q10) [1]/ 46, XY [5] [2001]
Shwachman-Diamond syndrome, anemia, neutropenia q10       12135662, 15474150 UPN2 Mitelman Database, Refenrece No. 9782 Edit
19 16382447_6 46, XY, del(20)(q11) [18]/ 46, XY [10] [Jun/01, BM]
46, XY, del(20)(q11) [13]/ 46, XY [10] [Jun/02, BM]
46, XY, i(7)(q10) [1]/ 46, XY [4] [Jun/02, PB]
46, XY [170] [Jun/02, PB-PHA]
Shwachman syndrome (without MDS/AML) q10       16382447 UPN 6 SBDS mutation (+) Edit
20 16382447_11 46, XY, i(7)(q10) [3]/ 46, XY [10] [Feb/03, BM]
46, XY [80] [Feb/03, PB-PHA]
46, XY, i(7)(q10) [1]/ 46, XY [45] [Nov/04, BM]
46, XY [98] [Nov/04, PB-PHA]
Shwachman syndrome (without MDS/AML) q10       16382447 UPN 11 SBDS mutation (+) Edit
21 16382447_14 46, XY, i(7)(q10) [1]/ 46, XY [14] [Mar/04, BM]
46, XY [36] [Apr/04, BM]
46, XY [18] [Sep/04, BM]
46, XY [169] [Sep/04, PB-PHA]
Shwachman syndrome (without MDS/AML) q10       16382447, 17356395 UPN 14 SBDS mutation (+) Edit
22 15769891_1 45, XX, i(7)(q10) Shwachman-Diamond syndrome q10       15769891, 16382447 patient 1 [15769891], 9 [16382447] SBDS mutation (+) Edit
23 Leszl_2000 46, XX, i(7)(q10)/ 46, XX Shwachman-Diamond syndrome (without MDS/AML) q10       16382447 6 [16382447] reported by Leszl et al. at Congresso Nazionale S.I.G.U., Orvieto, 2000 (abstract p.247) Edit
24 19222471_24 46,XX,i(7)(q10) Shwachman-Diamond syndrome q10   RP11-696I14/R P11-97P1   19222471 UPN 24   Edit
25 19222471_25 46,XX,i(7)(q10) Shwachman-Diamond syndrome q10   RP11-696I14/R P11-97P1   19222471 UPN 25   Edit
26 19222471_29 46,XY,i(7)(q10) Shwachman-Diamond syndrome q10       19222471 UPN 29   Edit
27 19222471_32 46,XY,i(7)(q10) Shwachman-Diamond syndrome q10       19222471 UPN 32   Edit
28 19222471_36 46,XX,i(7)(q10) Shwachman-Diamond syndrome q10       19222471 UPN 36   Edit
29 16382447_1_1 46, XY, i(7)(q10) [12]/ 46, XY [8] [Nov/99, BM]46, XY, i(7)(q10) [21]/ 46, XY [14] [Jul/00, BM]46, XY, inv(7)(p13q21) [7]/ 46, XY [143] [Jul/00, PB-PHA]46, XY, i(7)(q10) [20]/ 46, XY [10] [Jul/01, BM]46, XY [158] [Jul/01, PB-PHA]46, XY [50] [Jun/02, Skin] Shwachman syndrome (without MDS/AML) q11.2       16382447 UPN 1 SBDS mutation (+) Edit