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

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 8541548_14 45, XX, t(6;13)(q21;q32), -7/ 46, XX Shwachman-Diamond syndrome, myelodysplastic syndrome pter qter     8541548, 9074418, 9766504, 12472589 14 [8541548], UPN 2279 [9074418], 13 [9766504] Mitelman Database, Reference No. 6208 Edit
2 9603415_1 45, XY, -7 Shwachman-Diamond syndrome, myelodysplastic syndrome, short stature, growth hormone deficiency, recurrent diarrhea, loss of mineralization of distal femora pter qter     9603415, 9766504, 12472589 case 1 [9603415], 16 [9766504],   Edit
3 9603415_2_2 45, XY, -7/ 46, XY, i(7)(q10) Shwachman-Diamond syndrome, refractory anemia, short stature, growth hormone deficiency, metaphyseal chondroplasia developed marrow hypoplasia pter qter     9603415, 9766504, 12472589, 15474150, 16382447 case 2 [9603415], 15 [9766504], 3 [16382447]   Edit
4 10598142 45, XX, -7 [3]/ 47, XX, +C [1]/ 46, XX, [45] Shwachman-Diamond syndrome (without MDS AND AML) pter qter     10598142, 11156446, 16382447 4 [16382447]   Edit
5 7264801_2 46, XY, -7, +mar(18) [leukemia cells]
46, XY [cultured fibroblasts]
Shwachman syndrome, acute myeloid leukemia (preceded by pancytopenia) pter qter     7264801, 9766504 case 2 [7264801], patient 10 [9766504]   Edit
6 6722760_55 45, XY, -7 multiple sclerosis, acute myelomonocytic leukemia - M4 pter qter     6722760 55 Mitelman Database, Reference No. 922 Edit
7 6722760_63 45, XY, -7 general irradiation, acute myeloid leukemia pter qter     6722760 63 Mitelman Database, Reference No. 922 Edit
8 11807899_4 47, XY, +7/ 46, XY [amniocentesis]
46, XY [cord blood]
hydronephrosis pter qter     11807899 4 fetus, amniocentesis was done Edit
9 8922097_2 46, XY, r(7)(p22.3q36.3) [80%]/ 45, XY, -7 [20%] short stature, facial dysmorphism, café-au-lait spots, pigmented naevi pter qter     8922097, 10982483 case 12 [10982483]   Edit
10 15523614_2 45, XY, -7 [3]/ 46, XY, r(7)(p22q36) [44]/ 69, XY?, r(7), r(7) [2]/ 69, XY?, duplicated ring [2] severe IUGR, growth retardation, severe psychomotor and mental retardation, speech delay, microcephaly, seizures, multiple congenital melanocytic nevi, dysmorphic features, adducted thumbs, clinodactyly, limited elbow mobility, unable to walk at age 14 pter qter     15523614     Edit
11 12794535 46, XY, del(20)(q11.2q13.1)/ 45, idem, -7/ 46, XY Shwachman-Diamond Syndrome (without MDS/AML) pter qter     12794535, 16382447 8 [16382447]   Edit
12 15915162_2 45, XY, -7 [8]/ 46, XY [10] [amniocentesis]
45, XY, -7 [27]/ 46, XY [7] [term placenta cultures]
46, XY, upd(7)mat [100] [blood]
45, XY, -7 [15]/ 46, XY [85] [rectal biopsy]
46, XY [100] [skin]
Silver-Russell syndrome, Hirschsprung's disease, facial dysmorphism including small triangular face and pointed chin, learning disabilities in expressive speech pter qter     15915162   microsatellite analysis was performed on only blood sample; same patient as 15915162_1 Edit
13 15769891_14 45, XY, -7 [3]/ 46, XY [22] Shwachman-Diamond syndrome pter qter     15769891, 16382447 patient 14 [15769891], 10 [16382447] SBDS mutation (+) Edit
14 Amouri_ESHG2005_2 46, XX, -7, -8 [bone marrow]
46, XX, r(7)(p22q36) [80%]/ 46, XX, R(7) [1]/ 45, XX, -7 [1]/ 46, XX [2] [lymphocytes]
chronic myelomonocytic leukemia, growth & developmental delay, skin lesion pter qter     5 year-old patient R(7): double ring chr. 7; Amouri et al., ESHG, 2005, #P0306 Edit
15 16490798_9 46, XX. arr cgh del(7)(pterqter). ish 46, XX [92]/ 45, XX, -7 de novo [8] ventricular septal defect, absent thumbs, growth retardation, hydronephrosis, preductal coarctation of aorta pter qter     16490798 case 9 8% of patient's cells (WBCs) had monosomy 7 Edit
16 18801060_4 44,XX,add(5)(q11), add(6)(q13), -7, add(11)(q11), -12, del(16)(p11),- 17, -17, del(20)(q11), +2mar 14 ⁄ 2046,XX 6 ⁄ 20 myelodysplastic syndrome, refractory anemia pter qter     18801060 Patient 4   Edit
17 18801060_6 45, XY, -7 15⁄ 2046, XY 5 ⁄ 20 myelodysplastic syndrome, refractory anemia pter qter     18801060 Patient 6   Edit
18 18801060_8 44, XY, add(5)(q11), -7, add(12)(p11), -18 1 ⁄ 2044, XY, add(5)(q11), -7, add(8)(p11), add(12)(p11), -18 12 ⁄ 2044, XY, add(5)(q11), -7, add(12)(p11), der(15;17)(q10;q10), -18,+mar 2 ⁄ 2045, XY, add(5)(q11), -7, add(12)(p11), -18, +mar 3 ⁄ 2046, XY 2 ⁄ 20 myelodysplastic syndrome, refractory anemia with excess blasts pter qter     18801060 Patient 8   Edit
19 18801060_9 45, XY, add(5)(q11), -7, add(17)(p11), -20, del(22)(q11), +mar 4 ⁄ 2045, XY, add(5)(q11), -7, add(17)(p11), add(20)(q13), del(22)(q11),+ mar 1 ⁄ 2045, XY, add(5)(q11), -7, add(17)(p11), -18, add(20)(q13), del(22)(q11),+ mar 1 ⁄ 2043, XY, dic(3;14)(p11;p11),a dd(5)(q11), -7, add(17)(p11), -20, -22,+mar 1 ⁄ 2046, XY 13 ⁄ 20 myelodysplastic syndrome, refractory anemia with excess blasts pter qter     18801060 Patient 9   Edit
20 18556065_2_1 45,XY,−7[17] myelodysplastic syndrome - refactory anemia with excess of blasts pter qter     18556065 Pediatric Patient 2   Edit
21 18556065_4 45,XY,−7[12]/46,XY,−7,+ mar[8] myelodysplastic syndrome - refactory anemia with excess of blasts pter qter     18556065 Pediatric Patient 4   Edit
22 18556065_6 45,XY,−7[15] myelodysplastic syndrome - refactory anemia with excess of blasts pter qter     18556065 Pediatric Patient 6   Edit
23 18556065_1 46,XY,−7,+8[8]/47,idem,+ 11[10] myelodysplastic syndrome - refactory anemia with excess of blasts pter qter     18556065 Patient 1   Edit
24 18556065_2_2 44,XX,del(5)(q13q33),−7,+8,⠈’19,+mar[5]/46,X X[16] myelodysplastic syndrome - refactory anemia with excess of blasts in transformation pter qter     18556065 Patient 2   Edit
25 18556065_7 43,XY,add(3)(q13),del(4)(21),d el(5)(q14),−7,add(12)(q24),⠈’14,add(14)(q32),−20[5]/46,X Y[18] myelodysplastic syndrome - chronic myelomonocytic leukemia pter qter     18556065 Patient 7   Edit
26 18556065_9 47,XY,del(5)(q13q34),−7,+ mar[5]/46,XY[15] myelodysplastic syndrome - refactory anemia pter qter     18556065 Patient 9   Edit
27 18556065_11 46,XY,del(5)(q14q34),−7,+ 21[15]/47,XY,del(5)(q14q34),+ 21[2]/46,XY[2] myelodysplastic syndrome - refactory anemia with excess of blasts pter qter     18556065 Patient 11   Edit
28 18556065_13 44,XX,del(5)(q31q33),−7,−8,⠈’19,+mar[5]/46,X X[16] myelodysplastic syndrome - refactory anemia with excess of blasts pter qter     18556065 Patient 13   Edit
29 20075582 4?,XY,-7 myelodysplastic syndrome, central diabetes insipidus, cerebral salt wasting syndrome pter qter     20075582     Edit