The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- RING CHROMOSOMES

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 12431259 46, XY, r(7)(p22.3q36.3). ish r(7pter+, 7qtel+, AHT-) intrauterine growth retardation, short stature, microcephaly, hyperactive, clinodactyly of V finger, normal mental/motor development, short attention span, hyperactive behaviour p22.3 q36.3     12431259     Edit
2 8922097_1 46, XY, r(7)(p22.3q36.3) [80%]/ 45, XY, -7 [20%] short stature, facial dysmorphism, café-au-lait spots, pigmented naevi p22.3 q36.3     8922097, 10982483 case 12 [10982483]   Edit
3 4145271_1 46, XY, r(7)(p22q36) [57]/ 46, XY, r(7) [double size ring, 2]/ 45, XY, -7 [2]/ 47, XY, r(7), +r(7) [1]/ 46, XY [1] craniosynostosis, microcephaly, severe mental retardation, short stature, unilateral proptosis, ptosis, microcornea, small penis, first-degree hypospaidas, undescended testes p22 q36     537019, 4145271, 1002161, 711238, 539602, 7172483, 6758992, 4043965, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 1 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 33 [6758992], case 28 [7521123]   Edit
4 4145271_2 46, XY, r(7)(p22q36) [52]/ 46, XY, r(7) [double size ring, 1]/ 45, XY, -7 [4]/ 47, XY, r(7), +r(7) [3]/ 46, XY [2] normal intelligence, short stature, microcephaly, asymmetry of skull, sacral dimple, enlarged space between I and II toes p22 q36     4145271, 1002161, 711238, 539602, 537019, 7172483, 6758992, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 2 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 34 [6758992], case 15 [7521123]   Edit
5 2189730 46, XY, r(7)(p22q36)/ 46, XY growth failure, microcephaly, achromic spots and multiple pigmented naevi p22 q36     2189730, 8362903, 10982483 case 7 [8362903, 10982483]   Edit
6 1746606 46, XY, r(7)(p22q36) [35]/ 46, XY, partial dup r(7) [3]/ 46, XY, dup r(7) [1]/ 46, XY, der(7)r(7) [1]/ 45, XY, -7 [1] congenital cyanotic heart disease, situs inversus, capillary hemangiomata, respiratory problems, renal problems, low birth weight, growth retardation, microcephaly p22 q36     1746606, 8362903, 10982483 case 9 [8362903, 10982483] de novo Edit
7 8362903 46, XY, r(7)(p22q36) [95%]/ 46, XY [5%] severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, genital abnormalities, traits of holoprosencephaly p22 q36     8362903, 10982483 case 10 [10982483]   Edit
8 8911601_1 46, XY, r(7)(p22q36)del(7)(q36.3q36.3)[90]/ 45, -7 [8]/ 46, XY, dup r(7) [1]/ 47, XY, r(7), +r(7) [1] hypotelorism, proptosis, single nostril, cleft lip/palate, ambiguous genitalia, semilobar holoprosencephaly p22 q36     8911601, 9254845, 10982483 859 [9254845], case 11 [10982483]   Edit
9 3150243 46, XX, r(7)(p22q36) [46]/ 46, XX, dic r(7) [1]/ 46, XX, -7 [3] multiple café-au-lait spots, hypotonic, tonic seizures, developmental delay, mental retardation p22 q36     3150243, 8362903, 10982483 case 6 [8362903, 10982483]   Edit
10 9254845_884 46, XX, r(7)(p22q36) developmental delay, retardation, microcephaly, dysmorphia, no holoprosencephaly p22 q36     9254845 884   Edit
11 14734224_3 46, XY, der(7)t(7;7)(p22;q31)del(7)(q32q33), r(7)(p22q22) [6]/ 45, idem, der(2)t(2;22)(p24?;q11), add(8)(q24), -22 [7] splenic marginal zone lymphoma p22 q22     14734224 76-year-old man   Edit
12 15066321_27 44-46, XY, -3, -5, r(7)(p22q36)x2, +8, del(11)(q23), -17, +2mar [cp15] .ish r(7)(wpc7+, wcp11+, 46O13+, D7S480-, D7S650-, D7S514-, D7S2227-, tel7q-) refractory anemia with excess of blasts p22 q36 RP11-46O13/ D7S480   15066321 27 material of two ring chromosomes belonged to chr. 7 and chr. 11, but centromeres of both rings belonged to chr. 7; region D7S480-D7S2227 was lost in both rings and translocated to unknown chromosome der(?)t(?;11;7); telomeric probe was found in der(?)t(?;11;7) and a marker chromosome; Mitelman Database, Reference No. 10594 Edit
13 15523614_1 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 p22 q36     15523614     Edit
14 12606126_1_2 51, XX, +6, +dic r(7;7)(q22q21.2;p22q21.2), +13, +18, +18 [7] /66, XXX, -1, -4, +6, dic r(7;7), -9, -10, -11, +13, -14, -16, +18, +18, -22 [3]/ 46, XX [10] Wilms tumor p22 q21.1     12606126 1 Mitelman Database, Reference No. 9965 Edit
15 10572083_60_2 46, XX, t(12;21)(q12;q21)/ 46, XX, dup(1)(q21q42), r(7)(p22q31), add(13)(q34), der(21)t(7;21)(q32;q22) acute myeloid leukemia p22 q31     10572083 60 Mitelman Database, Reference No. 8407 Edit
16 Barros_1986 46, XY, r(7)(p22q36) growth delay, mental retardation, dysarthric speech, microcephaly, ocular anomalies, skin lesions, bone anomalies, genital anomalies p22 q36     2395166, 8362903, 10982483 case 5 [8362903] Barros et al., 1986, Ciência e Cultura 38 supple:849 Edit
17 Amouri_ESHG2005_1 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 p22 q36     5 year-old patient R(7): double ring chr. 7; Amouri et al., ESHG, 2005, #P0306 Edit
18 16737917 47, XX, r(7)(p22q36). ish(wcp7+, D7Z1+, EGFR+, D7S486x5), +8 [15]/ 46, XY [8] hepatosplenic T-cell lymphoma p22 q36     16737917   ring chromosome had five copies of D7S486 at 7q31 in the majority of cells Edit
19 17063086_52 46, XX, del(5)(q13q33), r(7)(p22q36) [5]/ 46, XX [4] T-cell acute lymphoblastic leukemia p22 q36     17063086 52 Mitelman Database, Reference No. 11644 Edit
20 23509645_1 fetal: 46,XX,r(7)(p22q36).ish r(7)(p22q36)(pVYS230A-,p VYS231A-)dn. arr 7p22.3(54,215-170,3 96)x1, 7q36.1q36.3(149,415,502-159,1 18,537)x1 [hg19] fetal holoprosencephaly, hypotelorism p22 q36.3     23509645   pregnancy terminated Edit
21 12687662_r(7) r(7)(p21q32) microcephaly, agenesis, multiple congenital anomalies p21 q32     12687662 r(7) in Table 5   Edit
22 17039236_10 46, XY, r(7), inc [14]/ 46, XY [7] T-cell acute lymphoblastic leukemia p15.2 q34 RP11-163M21/ RP11-1025G19 RP11-1220K2/ RP11-556I13 17039236 10 triplication of TCRβ and HOXA loci on r(7) Edit
23 10572083_61_2 46, XY, del(7)(q11)/ 46, idem, del(1)(q21), der(4)t(1;4)(q21;q21), der(6)t(6;6)(p23;q15)/ 45, XY, ins(2)(p23q33q37), t(3;8)(p23;p23), r(7)(p15q35), -13 acute myeloid leukemia p15 q35     10572083 61 Mitelman Database, Reference No. 8407 Edit
24 2496563_1 46, X, idic(X)(q13)
46, X, idic(X)/ 46, idem, r(7)(p15q32)
idiopathic myelofibrosis p15 q32     2496563 case 1 Mitelman Database, Reference No. 2901 Edit
25 10227403_2 47, XX, upd(7) mat, +r(7)(p13q11) pat/ 46, XX, upd(7) mat Russell-Silver syndrome, mental retardation p13 q11     10227403, 10789928, 11483637, 16007665 ref. 6 [16007665] partial isodisomy Edit
26 12946992_12 40, XX, -2, -3, -5, der(6;16)t(6;16)(q16;p13)t(2;16)(?;q24), r(7)(p12q11), i(11)(q10), der(12)t(12;21)(p12;q?)t(3;21)(p22;?), -13, der(15)t(3;15)(q21;p10), der(17)t(13;17)(q11;p12), der(21;22)(q10;q10) refractory anemia with excess of blasts p12 q11     12946992 12 Mitelman Database, Reference No. 10456 Edit
27 Ebrahim_ASHG2008 47,XY,r(7)(p12q21.2),+ neo(7)(pter->p14->neo->p14->p12::q21.2->qter)[20].ish r(7)(D7Z1+,WCP7+,ELN+,pter-,q ter-),+neo(7)(D7Z1-,WCP7+,E LN- ,pter+,qter+) developmental delay, neocentromere formation p12 q21.2       Ebrahim et al., ASHG 2009, Program #1054/W Edit
28 12759629_200106_2 46, XY, del(7)(q22q32) [4]/46, XY, r(7)(p11.2q11.2) [1] therapy-related refractory anemia with excess of blasts p11.2 q11.2     12759629 200106 Mitelman Database, Reference No. 10985 Edit
29 13680362_13 47, XX, +mar [26] de novo/ 46, XX [14] [peripheral blood]
r(7)/ r(7;7) de novo (2 subclones) [cenM-FISH]
7q+; pcp7q+; cep7+r(7)(::p11.1->q11.21::) [15]/ 7q++; pcp7q++; cep7++ r(7;7)(::p11.1-> q11.21::p11.1-> q11.21::) [4]/ 7q++++; pcp7q++++; cep7++++r(7;7;7;7)(::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::) [1] (3 subclones) [subcenM-FISH]
aorta insufficiency, aorta root ectasia; atrial septal defect, side ventricles enlarged with plexus cyst, dysacusis on both ears p11.2 q11.21     13680362 case 13   Edit
30 18049079_B.D. _2 46, XY, upd(7), +r(7)(p11.2q21) pat Russell-Silver syndrome, intrauterine growth retardation, feeding difficulties, retarded bone age, growth retardation, motor development delay, low set ears/ear anomalies, muscular hypoplasia, triangular face, micrognathia, blue sclerae p11.2 q21.12     18049079 B.D. dizygotic twin Edit
31 18852357_2 mos 47,XY,+r(7)(p11.2q11.21)[22]/4 6,XY,upd(7) mat myoclonus-dystonia syndrome, Silver-Russell syndrome, intrauterine growth retardation, growth retardation, premature puberty, dystonia, myoclonus, small triangular-shaped face, prominent forehead, hypertelorism, smallmouth with thin lips, micrognathia with pointed chin, low posterior-rotated and overfolded ears p11.2 q11.21 RP5-1091E12 RP11-340I6 18852357     Edit
32 16007665 47, XX, +r. ish r(7)(::p11.1-> q11.21::). ish 7p11.1-q11.1(D7Z1×1), 7p11.2(bA10F11×1), 7q11.21(bA3N2×1) [15]/ r(7;7)(::p11.1-> q11.21::p11.1 -> q11.21::). ish 7p11.1-q11.1(D7Z1×2), 7p11.2(bA10F11×2), 7q11.21(bA3N2×2) [4]/ r(7;7;7;7)(::p11.1-> q11.21::p11.1 -> q11.21::q11.21-> p11.1::q11.21-> p11.1::). ish 7p11.1-q11.1(D7Z1×4), 7p11.2(bA10F11×4), 7q11.21(bA3N2×4) [1]/ 46,XX [10] psychomotor development, congenital heart defect, facial dysmorphism (broad nasal bridge, epicanthal folds, telecanthus, retrognathia, high arched palate, dysplastic ears), long hands, fingers, feet and toes, hypotonia p11.1 q11.21     16007665     Edit
33 8956866_21 48, XX, r(7)(?p11q36), +12, del(14)(q22q32), +18 [18]/ 46, XX [2] mantle cell lymphoma p11 q36     8956866 21 Mitelman Database, Reference No. 6667 Edit
34 24013690 initial: 47,XY, +8 [11]/47,XY, del(2)(q21q31),+8[5]/46,X Y [2]; after transplantation: 46,XX, r(7)(p10p22)[26/3 1], 46,XX[5/31] refractory anemia with excess blasts, trilineage dysplasia; after cord blood transplantation: AML with myelodysplasia-related changes, donor cell-derived leukemia p10 p22     24013690     Edit
35 926417 46, XY, r(7) [140]/ 46, XY, dic r(7) [8]/ 45, XY, -7 [6]/ 47, XY, r(7), +r(7) [1]/ 46, XX, dic r(7)x2 [1]/45, XY, -C [5]/ 46, XY [1] mental retardation, developmental delay, speech delay, café-au-lait spots, clumsy eye movement pter qter     926417, 3150243, 7172483, 2395166, 2189730, 8362903, 10982483 case 3 [8362903, 10982483] mother had some types of structual chromosomal abnormalities: ring formation, reciprocal translocation, pericentric inversion and acentric fragmentaion Edit
36 8428043 46, XX, r(7) skin lesions, numerous melanocytic nevi, short stature, malignant melanoma pter qter     8428043     Edit
37 10594874_2 46, XY [293]/ 47, XY, +7 [56]/ 46, XY, r(7) [60]/ 47, XY, +7, r(7)[2] intrauterine growth retardation, short stature, moderate mental retardation, multiple minor anomalies, pigmentation anomalies pter qter     10594874     Edit
38 7172483 46, XX, r(7) [96]/ 47, XX, r(7), +r(7) [3]/ 46, XX, der(7)r(7) [1] short stature, systemic hypertension, wide-spaced nipples, slightly arched palate, skin lesions associated with cutis marmorata on abdomen and thighs, naevus flammeus on forehead and vertex, multiple pigmented naevi on all parts of the body pter qter     7172483, 3150243, 7172483, 2395166, 2189730, 1415332, 8362903, 10982483 SI [7172483], case 4 [8362903, 10982483]   Edit
39 2395166 46, XY, r(7)(pter->qter) prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, ocular and genital anomalies, severe mental retardation, dysarthric speech pter qter     2395166, 8362903, 10982483 case 8 [8362903, 10982483]   Edit
40 6722761_8_2 46, XY, r(?7) [5]/ 45, XY, -7 [13] Hodgkin's disease, therapy-related acute myeloid leukemia pter qter     6722761 8 Mitelman Database, Reference No. 1063 Edit
41 10086728_719 48, XY, r(7), +8, +21 refractory anemia with excess of blasts pter qter     10086728 EWOG 719 Mitelman Database, Reference No. 7896 Edit
42 10982483 46, XX, r(7) [124]/ 46, XX, dic r(7) [3]/ 47, XX, r(7), +r(7) [2]/ 46, XX, der(7)r(7) [10]/ 45, XX, -C [3]/ 46, XX [1] microcephaly, growth and developmental delay, multiple angiomas, partial sacral agenesis pter q36     10982483 case 13 (present case) 7q36 deletion in the ring chromosomes Edit
43 8328459_B 47, XY, +r(7) pat [100%] high and narrow forehead, down-slanting palpebral fissures, low-set ears, micrognathia, normal development but low performance pter qter     8328459, 11241494, 15337469, 16007665 case B [8328459, 15337469], case H [11241494], ref. 3 -5 [16007665]   Edit
44 14999294_74 46, XY, add(1)(q44), t(4;12)(q12;p13), del(5)(q15q35), add(6)(p22), r(7), i(9)(q10), add(14)(q32), t(14;16)(q11.2;q24), add(15)(p11.2), -17, add(18)(p1?3), +mar acute lymphoblastic leukemia pter qter     14999294 74   Edit
45 9797774_1_2 46, XY [3]/ 45, XY, -7 [6]/ 46, XY, r(7) [21] refractory anemia with excess of blasts pter qter     9797774 1 Mitelman Database, Reference No. 7722 Edit
46 9797774_2 46, XY, r(7) [15]/ 46, XY [5] refractory anemia with excess of blasts in transformation pter qter     9797774 2 Mitelman Database, Reference No. 7722 Edit
47 9797774_3_2 43, X, -Y, del(5)(q13q35), -7, der(12)t(7;12)(?;q?2), -16 [7] /44, idem, +r(7;12)(?;?) refractory anemia with excess of blasts in transformation pter qter     9797774 3 Mitelman Database, Reference No. 7722 Edit
48 7522537_1_2 46, XX, del(5)(?q31q34), dup(7)(?q22q32), r(7) bilineage or biphenotypic leukemia pter qter     7522537 1 Mitelman Database, Reference No. 5401 Edit
49 7522537_2 46, XY, r(7), t(8;15)(q1?;q24), del(13)(q12q14) refractory anemia pter qter     7522537 2 Mitelman Database, Reference No. 5401 Edit
50 7522537_3_1 44, XY, r(3), -5, -6, r(7), add(10)(p1?), t(11;22)(q13;q13), add(16)(q24)/ 43, XY, r(3), -5, -6, -7, add(10), t(11;22), add(16) acute erythroleukemia - M6 pter qter     7522537 3 Mitelman Database, Reference No. 5401 Edit
51 7522537_4 46, XX, r(7) idiopathic myelofibrosis pter qter     7522537 4 Mitelman Database, Reference No. 5401 Edit
52 12599184_4 47, XY, +r(7) de novo developmental delay, therapy resistant seizures, no overt dysmorphic features pter qter     12599184, 15337469, 16007665 case 4 (00-1438) [12599184], case G [15337469], ref. 9 [16007665]   Edit
53 15611930_32 47, X, der(X)t(X;18?), del(5)(q13q33), t(5;1;12)(q?;q?;p?), r(7), del(18)(q?), +mar

rev ish enh(1p12p13, 6p21.3, 8q21.1, 8q22, 8q23, 9q34, 11q13, 22q13), dim(5q14q33, 7q31qter, 8p22, 10p12, 11q14q22, 12p12, 18q12), amp(11q23qter, 20p12p13?) [detected by CGH]
refractory anemia with excess of blasts in transformation pter q31     15611930 32 Mitelman Database, Reference No. 10788 Edit
54 12955771 48-51, XY, +2-5mar de novo/ 46, XY [r(6) in 68%, r(12) in 24%, r(7) in 18%, r(19) in 14% of cells, r(10)] hypotonia, opisthotonos, broad nasal bridge, large lips, retrognathia, proximally implanted thumbs, total situs inversus, agenesis of corpus callosum pter qter     12955771     Edit
55 16941150 47, XX, r(7)(p?q?), +8, der(19)t(?;19)(?;p13) [bone marrow] hepatosplenic gamma/delta T-cell lymphoma pter qter     16941150   Mitelman Database Reference No. 11738 Edit
56 Berg_ASHG2006_2_2 47, XXY, r(7) [33%]/ 47, XXY [67%] severe language delay pter qter       r(7) contains material from 7q11.23; duplication was indentified by array CGH and confirmed by FISH Edit
57 9545097_+r(7) mos +r(7) autism pter qter     9545097     Edit
58 9545097_r(7) mos +r(7) autism pter qter     9545097     Edit
59 15190256_20_1 46, XY, t(9;22) [60] [before Cx]
46, XY, r(7) [10]/ 45, XY, -7 [5]/ 46, XY [25] [9 mo after Cx]
chronic myeloid leukemia pter qter     15190256 20 Mitelman Database Reference No. 10684 Edit
60 18300171_MM6 46,XX,r(7) [10% ]/46,XX dysmorphic face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, café-au-lait spots, microcephaly, growth delay, speech delay, severe intellectual impairment, seizures pter qter     18300171 MM6   Edit
61 21916832_4_1 4?,XY,r(7),+ mar.ish i(7)(q) Chronic MyeloidLeukemia         21916832 UPN-04   Edit
62 11241494_I 46, XY, r(7)(q10q11.2) [35%]/ 46, XY [65%] phenotypically normal q10 q11.2     11241494 case I father of 8328459_B Edit
63 12000362 47, XY, +mar. ish r(7)(D7Z1+) de novo significant development delay, speech delay, good receptive language, mental retardation, facial dysmorphism q10 q11.2?     12000362, 15337469, 15580634, 16007665 case F [15337469], ref. 8 [16007665]   Edit
64 10797441_1 47, XX, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) mat [50%]/ 46, XX [50%] developmental delay, mild mental retardation, severe speech delay, dysmorphic facies (flat profile, high nasal bridge, prognathia, simply formed ears, downslanting palpebral fissures, bifid uvula, midline cleft palate), right simian creases, genua valga q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 1 [10797441], case C [15337469], ref. 7 [16007665] first child of 10797441_3 Edit
65 10797441_2 47, XY, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) mat [50%]/ 46, XX [50%] psychomotor development delay, severe speech delay, dysmorphic features (flat profile, high nasal bridge, prognathia, simply formed ears, downslanting palpebral fissures) q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 2 [10797441], case D [15337469], ref. 7 [16007665] third child of 10797441_3 Edit
66 10797441_3 47, XX, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) de novo [50%]/ 46, XX [50%] speech difficulties, dysmorphic features q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 3 [10797441], case E [15337469], ref. 7 [16007665] mother of 10797441_1 and 10797441_2 Edit
67 15580634 47, XX, +r(?). ish r(7)(q10q11.23)(wcp+, D7Z1+, D7S520+, ELN+, LINK1+, D7S613+, D7S659/499-, D7S494-) de novo [50]/ 46, XX [50] [also confirmed by array CGH] expressive speech development, poor articulation, minor dysmorphic features, recurrent otitis media, and recurrent urinary tract infections q10 q11.23     15580634     Edit
68 12606126_1_1 51, XX, +6, +dic r(7;7)(q22q21.2;p22q21.2), +13, +18, +18 [7] /66, XXX, -1, -4, +6, dic r(7;7), -9, -10, -11, +13, -14, -16, +18, +18, -22 [3]/ 46, XX [10] Wilms tumor q21.1 q22     12606126 1 Mitelman Database, Reference No. 9965 Edit