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

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 3538996_PA13b 46, XY, inv(7)(p22.2q21.13) de novo sterility p22.2 q21.13     3538996 PA13b previously published elsewhere Edit
2 2309771_familyG_mother 46, XX, inv(7)(p22.1q34) phenotypically normal p22.1 q34     2309771 family G, mother mother of 2309771_familyG_infant Edit
3 1552550 46, XX, inv(7)(p22q11.23), r(8)(p23q24.3) de novo congenital microcephaly, psychomotor developmental delay, high arched palate, prominent nose, no speech p22 q11.23     1552550     Edit
4 7616545_T8 46, XY, inv(7)(p22q21.3) de novo bilateral split hand/split foot, haemangioma p22 q21.3   D7S527/ D7S1812 7616545, 8733122, 8782053, 10049579, 12690205 T8 [8733122, 10049579], ref. 20 [8782053]   Edit
5 9415687_father 46, XY, inv(7)(p22q22) phenotypically normal p22 q22     9415687 father   Edit
6 10590434_father 46, XY, inv(7)(p22q31.3) phenotypically normal p22 q31.33   D7S490/ D7S686 10590434 father   Edit
7 NIGMS_GM03666 47, XY, +dic(15)(q11)/ 47, XY, inv(7)(p22q32), +dic(15) [38%] phenotypically normal p22 q32     GM03666 inv(7) is present in 38% of cells; fibroblast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
8 14679581_4_1 46, XY, inv(7)(7pter-> 7p22::7q21.11-> 7p22::7q21.11-> 7qter), der(10)t(7;10;12)(12qter-> 12q21.3::7q21.11-> 7q21.11::10p13-> 10qter), der(12)t(10;12)(12pter-> 12q21.3::10p13-> 10pter) psychomotor delay, large skull, frontal bossing with receding frontal hairline, sparse eyebrows and eyelashes, large nose, small mouth, speech problems p22 q21.11   RP4-802A9/ RP5-897G10 14679581 patient 4   Edit
9 MCN_19840001-086 46, XX, inv(7)(p14.3p22) broad nasal bridge, polydactyly - postaxial (ulnar)/type unspecified, polydactyly of feet - postaxial/type unspecified, syndactyly (other than minimal 2nd and 3rd toes) p22 p14.3     MCN ID: 19840001-086 Edit
10 11780207_7 46, XY, inv(7)(p22q11) phenotypically normal; wife had one spontaneous abortion in the first pregnancy p22 q11     11780207 case 7 karyotype of daughter (2nd pregnancy) was 45,XO/46,XX,i nv(7)(p22q11) Edit
11 648176_father 46, XY, inv(7)(p22q32) phenotypically normal p22 q32     648176 father (II-4, Family G111WH) father of 648176_proposita; siblings (II-2, II-3) had same inversion Edit
12 15264281_1_patient 46, XX. ish der(7)inv(7)(p22q36.3)(D7S427-) mat [assumed to be equivalent to rec(2)dup(7p)inv(7)(p22q36.3)] trigonocephaly, microphthalmia, upward slanting palpebral fissures, hypotelorism, midface hypoplasia, depressed nasal bridge, small nose with depressed tip, absent philtrum, bilateral cleft lip, hypoplastic thorax, protruding abdomen, megacolon, uterus bicornis unicollis, hypoplastic pelvis, profound seizures; died at 2 months of age p22 q36.3     15264281 patient 1 (1-00898) monosomy of 7q36.3-qter (deletion of 3.6 Mb) and trisomy of 7p22-pter (duplications of 0.3-5.8 Mb) Edit
13 15264281_1_mother 46, XX. ish inv(7)(p22q36.3)(D7S427 st, yac965c12/D7S550 mv, yac855a6/D7S481 st) phenotypically normal p22 q36.3   D7S550/ D7S427 15264281 mother of patint 1   Edit
14 19401716_3 46,XY,inv(7)(p22q21.3)de novo split hand/foot malformation, arteriovenous malformation of the hand, PDD-NOS p22 q21.3   RP11-837N16 19401716, 7616545 Patient 3   Edit
15 11829489_5 46, XY, inv(7)(p14p21) Russell-Silver syndrome p21.3 - 21.2 p14.1 D7S513/ D7S507 AC006023 11829489 patient 5   Edit
16 11280950_mother_1 46, XX, ins(2;7)inv(7)(2pter-> 2q32.2::7p12.2-> 7p21.3::2q32.2-> 2qter;7pter-> 7p21.3::7q21.2-> 7p12.2::7q21.2-> 7qter) healthy mother; two of five pregnancies were miscarried, one infant died at 2 days of age with coarctation of the aorta, one son was healthy. The last offspring was a daughter with craniofacial dysmorphism and mental retardation p21.3 q21.2 D7S589/ AC002124 CIT402G5/ D7S666 11280950 mother No accession number for CIT402G5 Edit
17 ECACC_97102401 46, XY, inv(7)(p12.2p21.3) pat phenotype abnormal; serum screened risk 1:212 p21.3 p12.2     97102401 (cell line: DD2997) Edit
18 15039973_DD9707244 47, XY, inv(7)(p12.2p21.3) pat phenotype not given; prenatal diagnosis was done p21.3 p12.2     15039973 DD9707244   Edit
19 15039973_DD9905387 46, XY, inv(7)(p15.2p21.3) mat abnormal phenotype p21.3 p15.2     15039973 DD9905387   Edit
20 14513358_N1339D 46, XX, inv(7)(p21.3q34) Saethre-Chotzen syndrome p21.2 q34 CTD-2110P21/ GDB:1318450   14513358 N1339D breakpoint on 7p lies in a 10-kb region 260kb 3 Edit
21 Unpublished_25239 46, XX, inv(7)(p21.2;q22.1) autism, psychosis p21.2 q22.1 G248P8726D9 RP11-110G9 25239 updated Nov/07 Edit
22 15108196_36_2 rev ish dim(7p14p15) de novo [inv(7p) was detected by PCR] mental retardation, speech delay, malformed ears, small downslanting palpebral fissures, hypermetropia(+6), broad neck, short extremities, short fingers, clinodactyly of 5th fingers, short toes, pes planus p21.1 p15.2 rs12055954/ rs2704292 rs6946110/ rs6965433 15108196, 15378350 case 36 [15108196], case 2 [15378350] distal breakpoint of inversion disrupted HDAC9; 8-bp deletion in inversion breakpoint at 7p21.1 Edit
23 ECACC_95101903 46, XX, inv(7)(p21p15) phenotype not given p21 p15     95101903 (cell line: CC0166); data unpublished Edit
24 8362388_2 46, XY, der(7)del(7)(p21)inv(7)(p13p21) autism p21 p13     8362388, 9813777, 11733747     Edit
25 3538996_DI1a 46, X?, inv(7)(p2109q11.200) stillbirth p21 q11.2     3538996 DI1a   Edit
26 3538996_RE1 46, XX, inv(7)(p2109q11.200) recurrent abortions p21 q11.2     3538996 RE1   Edit
27 3538996_ST1 46, XY, inv(7)(p2109q11.200) pat phenotypically normal p21 q11.2     3538996 ST1 father had same inversion Edit
28 3538996_TO1 46, XY, inv(7)(p2109q11.200) phenotypically normal p21 q11.2     3538996 TO1 sister had trisomy 21, child had same inversion Edit
29 3538996_LI1a 46, XX, inv(7)(p2100q2100) phenotypically normal; mother of child with trisomy 21 (w/o inv(7)) p21 q21     3538996 LI1a two sisters had same inversion Edit
30 3538996_PA12a 46, XY, inv(7)(p2100q2100) phenotypically normal; father of stillbirth p21 q21     3538996 PA12a   Edit
31 3538996_SE1a 46, XY, inv(7)(p2100q2100) phenotypically normal; wife had recurrent abortions p21 q21     3538996 SE1a   Edit
32 3538996_SE1b 46, XY, inv(7)(p2100q11.22) pat sterility p21 q11.22     3538996 SE1b father had same inversion Edit
33 3538996_MA1 46, XY, inv(7)(p2100q3109) phenotypically normal; wife had recurrent abortions p21 q31     3538996 MA1   Edit
34 8280871_baby 69, XXX, rec(7)dup(7p)inv(7)(p21q32), rec(7)dup(7q)inv(7)(p21q32) pat prominent occiput with open posterior fontanelle, low-set and small ears, iris colobomata, microphthalmia, possible glaucoma, hypotelorism, prominent nose, microstomia, hypoplastic external genitalia, bilateral complete 3/4 syndactyly of fingers, syndactyly of VI-V toes on the left, equinus deformity on the right foot, holosystolic murmur, enlarged heart, died the day after birth p21 q32     8280871 baby balanced rearragement Edit
35 8280871_father 46, XY, inv(7)(p21q32) phenotypically normal p21 q32     8280871 father   Edit
36 15039973_DD9601631 46, XY, inv(7)(p15.1p21) reproductive difficulties p21 p15.1     15039973 DD9601631   Edit
37 3570287_inv(7)(p15.3q11.2) 46, XX, inv(7)(p15.3q11.2)mat, 1qh+ mat phenotype not given p15.3 q11.2     3570287 one of 13 familiar inversion cases [Table 1]   Edit
38 MCN_20050013-114 46, XX, inv(7)(p15.3q11.23) phenotype not given p15.3 q11.23     MCN ID: 20050013-114 karyotyped for prenatal diagnosis; Edit
39 MCN_19840002-004 46, XX, inv(7)(p15.2q33) mat facies significantly abnormal, mental retardation, webbed neck/excess skin/cystic hygroma, abnormal ear shape/structure, coloboma of the eyelid, hearing abnormal congenital/a cquired, abnormally placed nipples, short stature - postnatal p15.2 q33     MCN ID: 19840002-004 Edit
40 MCN_19970006-281 46, XY, inv(7)(p15.2q35) Infertility p15.2 q35     MCN ID: 19970006-281 Edit
41 MCN_19960009-281 46, XX, inv(7)(p15.2q33) hypogonadism/d elayed puberty, hypogonadotrophic hypogonadism, hearing abnormal congenital/a cquired, short stature - postnatal p15.2 q33     MCN ID: 19960009-281 Edit
42 ECACC_93102908 46, XX, inv(7)(p15.1q11.23), dup(15)(q11.2q13) phenotypically normal; mother of mentally retarded boy with dup(15) p15.1 q11.23     93102908 (cell line: BO0812); data unpublished Edit
43 1863992_mother 46, XX, inv(7)(p15.1q36) mat? phenotypically normal p15.1 q36     1863992 mother (II-20) mother of 1863992_proband; siblings (II-19, 21, 22) had multiple anomalies Edit
44 ECACC_93102907 46, XX, inv(7)(p15.1;q11.23)dup(15)(q11.2q13)(?) phenotypically normal; mentally retarded son has dup(15)(q11.2q13) p15.1 q11.23     93102907 (cell line: DD1566) Edit
45 9806579_inv(7) 46, XX, inv(7)(p15.1p22) infertility, candidate for intracytoplasmic sperm infection p15.1 p22     9806579 inv(7), MCN ID: 19980033-999 Edit
46 Unpublished_14298 46, XY, inv(7)(p15q36) mat cerebral infarct p15 q36 AC004549   12690205 14298 phenotypically normal mother and maternal aunt had same inversion and multiple miscarriags/M CA Edit
47 6683201 46, XX, inv(7)(p15q22) mat three consecutive spontaneous abortions p15 q22     6683201, 4040824, 3491573, 3770747, 3546078 case 1 [3770747], ref 34 [3491573] mother had same inversion and three spontanious abortions out of six pregnancies Edit
48 3479040_BDI40952 46, XX, inv(7)(p15q11) mat phenotype not given p15 q11     3479040 BDI 40952 amniocentesis was performed due to advanced maternal age Edit
49 8958330 46, XX, t(2;16)(q33;q24), inv(7)(p15q11.23) de novo [amniocentesis at 17 wks] intrauterine growth retardation [detected by ultrasound]; pregnancy was terminated p15 q11.23     8958330, 16470734 fetus maternal serum alfa-fetoprotein was elevated Edit
50 MCN_19990003-059 46, XY, inv(7)(p15q32) mat small for gestational age (IUGR), prenatal diagnosis p15 q32     MCN ID: 19990003-059 Edit
51 2002483_mother 46, XX, inv(7)(p15q36) phenotypically normal p15 q36     2002483 mother mother of 2002483_proband Edit
52 9029678 46, XX, inv(7)(p15q31) multiple recurrent abortions p15 q31     9029678     Edit
53 3410463_2 46, XX, t(2;7)(q23;p15)inv(7)(p15q11.2), t(5;20)(q11;q11) mat mental and growth retardation, psychomotor developmental delay; microphthalmos, long philtrum, prognathism, microcephaly, prominent horehead, slightly asymmetric face, prognathism, clinodactyly of 5th finger and toe p15 q11.2     3410463, 1327590 proposita (B.A.); MCN ID: 19880002-999 mother (B.M.)and maternal grandmother (A.P.) had same karyotype and smilar phenotype; Edit
54 11916331_1394 46, XX, inv(7)(p15q36) [2]/ 46, XX [98] autism, low posterior hairline, upslanting palpebral fissures, beaked nose, prognathism, coarse lips, halux valgum, kyphosis, lordosis p15 q36     11916331 1394   Edit
55 15039973_DD7600800 46, XY, inv(7)(p15q22) pat abnormal phenotype p15 q22     15039973 DD7600800   Edit
56 19672683 47,XYY, inv(7)(p15q36) de novo postaxial polydactyly type A, syndactyly 3-6 of both hands and feet, shortened ulna, overgown radialhead, left knee congenital flexion-contraction, webbing of the fossa poplitea, lateral patella luxation p15 q36 G248P81511A6/G 248P89547A12 G248P89016G3 19672683   bp on p arm lies within intron 1 of NFE2L3 Edit
57 3376998_30F 46, XX [13]/ 46, XX, inv(7)(p14q35) [1] multiple spontaneous abortion p14 q35     3376998 30 year-old female   Edit
58 3538996_DI1b 46, XY, inv(7)(p14q21.3) phenotypically normal; wife had recurrent abortions p14 q21.3     3538996 DI1b   Edit
59 3538996_CH1 46, XY, inv(7)(p14q21.3) mat abnormal phenotype p14 q21.3     3538996 CH1 mother had same inversion Edit
60 3538996_LI1b/PA13a 46, XY, inv(7)(p14q21.3) mat sterility p14 q21.3     3538996 LI1b, PA13a mother and one brother (not sterile) had same inversion Edit
61 3538996_PA12b/PA3 46, XX, inv(7)(p14q21.3) mat, +21 trisomy 21 p14 q21.3     3538996 PA12b, PA3 mother, maternal aunt and her child (cousin) had same inversion; maternal uncle had child with trisomy 21 Edit
62 3538996_ST2a 46, XY, inv(7)(p14q11) phenotypically normal; wife had abortion p14 q11     3538996 ST2a son had same inversion Edit
63 MCN_19850008-114 46, XY, inv(7)(p14q22.2) ambiguous genitalia p14 q22.2     MCN ID: 19850008-114 Edit
64 6862436 4?, XY, inv(7)(p14q35), t(14;14) ataxia telangiectasia p14 q35 TRGV3 TRBJ2-2$ 6862436, 2529926 AT patient Mitelman Database, Reference No. 3171 Edit
65 3385745_infant 46, XY, inv(7)(p13q22) lethal type II osteogenesis imperfecta, simian creases, still birth, multiple fractures p13 q22     3385745, 2738906 MCN ID: 19870002-999 mother carried same inversion; Edit
66 3385745_mother 46, XX, inv(7)(p13q22) phenotypically normal; son with same inv(7) had lethal type II osteogenesis imperfecta p13 q22     3385745, 2738906 mother, GM09324 GM09324: fibrablast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
67 8317486 46, XY, inv(7)(p13q36) mat? phenotypically normal; wife had one normal child and five first-trimester spontaneous abortions p13 q36     8317486 MCN ID: 19930006-999 first cousin (daughter of maternal uncle) and her daughter carried same inversion; Edit
68 6235485_lab39 46, XX, inv(7)(p13q11) mat, t(6;18)(q24;q23) pat phenotype not given p13 q11     6235485 balanced autosomal rearrangement from lab 39 amniocentesis Edit
69 6235485_lab46_inv(7) 46, X?, inv(7)(p13q11) mat phenotype not given p13 q11     6235485 balanced autosomal rearrangement from lab 46 amniocentesis Edit
70 ECACC_2062018 46, XX, inv(7)(p13q11.23) de novo phenotype not given p13 q11.23     2062018 (cell line: DD3716) Edit
71 MCN_19970011-281 46, XY, inv(7)(p13q21) de novo spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, terminal broadening fingers/clubbing p13 q21     MCN ID: 19970011-281 Edit
72 MCN_19870001-089 46, XX, inv(7)(p13q22) pat mental retardation, microcephaly, other cardiovascular defect p13 q22     MCN ID: 19870001-089 Edit
73 3983641_2_2 46, XX, t(7;7)(p13;q35)/ 47, XX, -14, +t(14;14)(q11;q11), +t(14;14)(q11;q11), 46, XX, t(7;14)(p13;q11), 46, XX, inv(7)(p13q35)/ 46, XX, t(7;14)(q35;q11)/ 46, XX, t(14;14)(q32;q11) ataxia telangiectasia p13 q35     3983641 case 2   Edit
74 7411307_2 46, XY, inv(7)(p13q32) [1]/ other aberration(s) [8]/ 46, XY [94] [age 7] ataxia telangiectasia p13 q32     7411307 2 brother of 7411307_1 Edit
75 7411307_3_2 46, XY, inv(7)(p13q32) [3]/ 46, XY, t(7;14)(p13;q11) [1]/ other aberration(s) [4]/ 46, XY [42] [age 8] ataxia telangiectasia p13 q32     7411307 3   Edit
76 16382447_1_2 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) p13 q21     16382447 UPN 1 SBDS mutation (+) Edit
77 15039973_DD0200787 46, XX, inv(7)(p13q11.23) de novo abnormal phenotype p13 q11.23     15039973 DD0200787   Edit
78 15039973_DD8604904 46, XX, inv(7)(p13q22) mat phenotype not given; prenatal diagnosis was done p13 q22     15039973 DD8604904   Edit
79 Maloney_ESHG2005_1 46, XX, inv(7)(p13q11.23) de novo short palpebral fissures, overlapping fingers, feeding difficulties p12.3 q11.23 RP11-21H20/ RP4-815D20 RP11-575M4 first patient, 2-month-old female AUTS2 may be disrupted; Maloney et al., ESHG, 2005, #P0367 Edit
80 10893502_1 46, XY, inv(7)(p12.2q31.3) de novo autism p12.2 q31.3   CFTR/ D7S643 10893502 case 1 (III:3) [10893502], ECACC No. 82411 (cell line: BD2963) maternal uncle (II:1) had Asperger syndrome; first cousin (III:1) had specific disorders of speech and language (SDDSL); Edit
81 Unpublished_17298 46, XY, inv(7)(p12p22) unknown phenotype p12 p22     17298-AFC data unpublished Edit
82 2606480 46, XX, inv(7)(p12q11.23) de novo Zellweger syndrome; hypotonia, high and bossed forehead, wide anterior fontanel, narrow palpebral fissures, short nose with depressed nasal bridge, malformed large ears, micrognathia, heart defects p12 q11.23     2606480     Edit
83 7449183_2 46, XX, t(X;3;7;21)(Xpter-> q27::3p11-> pter; 3p11-> q12::7q21-> qter; 7pter-> p12::q21-> 3q12-> qter; Xq28::21q21-> p12::q21->qter) de novo mental retardation, brachycephalic, flat facies, low-set incompletely outfolded ears, depressed nasal bridge, shortened uvula, four toes on the right foot, severe psychomotor delay, mild generalized hypotonia p12 q21     7449183 GD, MCN ID: 19800001-999 Edit
84 6392555_1 46, XY, inv(1)(q25q42), inv(7)(p12q31.2) pat floppy baby with cerebral palsy p12 q31.2     6392555 case 1 [6392555] father and sister carried both inversions Edit
85 3538996_ST2b 46, X?, inv(7)(p12q35) de novo abnormal phenotype p12 q35     3538996 ST2b   Edit
86 Unpublished_14822 46, XX, inv(7)(p13q32) difficulties with visual, fine perception and gross motor skills p11.2 q32 RP11-832H18 RP11-617C20 14822 data unpublished; RP11-617C20***SEQUENCING IN PROGRESS***; molecular cytogenetic data is not consistent with karyotype Edit
87 12384779_AG 46, XY, inv(7)(p11.2q11.21) Russell-Silver syndrome p11.2 q11.21 D7S1618/ D7Z2 D7Z1/ sWSS3627 12384779 AG   Edit
88 12384779_AM 46, XX, inv(7)(p11.2q22) post-natal growth retardation p11.2 q22 D7S1618/ GDB:1317186 D7S477/ D7S518 12384779 AM   Edit
89 12384779_PW 46, inv(7)(p11.2q36) post-natal growth retardation p11.2 q36 D7S1618/ D7Z2   12384779 PW   Edit
90 MCN_19890002-293 46, XY, inv(7)(p11.2q11.23) mental retardation, broad nasal bridge, anotia/microtia, optic nerve abnormality/a trophy p11.2 q11.23     MCN ID: 19890002-293 Edit
91 MCN_19960001-023 46, XX, inv(7)(p11q12) precocious puberty, generalised obesity p11 q12     MCN ID: 19960001-023 Edit
92 15039973_DD8202794 46, XX, inv(7)(p11q22) pat, inv(1)(q25q42) pat abnormal phenotype p11 q22     15039973 DD8202794   Edit
93 Unpublished_14010 inv(7) [paracentric inversion] polycystic kidney disease pter qter     14010 data unpublished Edit
94 16382447_13 46, XY [21] [Jun/03, BM]
46, XY [100] [Jun/03, PB-PHA]
46, XY [12] [Jun/04, BM]
46, XY [100] [FISH indicated inv(7)] [Jun/04, PB-PHA]
Shwachman syndrome (without MDS/AML) pter qter     16382447 UPN 13 SBDS mutation (-) Edit
95 9439652_LC4_2 46, XY, t(5;9)(q22.1;p22), t(7;18)(p14;q21)inv?(7q) [revised based on SKY] dysmorphic features, developmental delay q10 qter     9439652 case LC4   Edit
96 3721507 46, XY, inv(7)(q11q22) pat phenotype not given q11 q22     3721507, 3546078, 7717416 fetus [3721507], reference 73 [7717416] father and grandfather carried the same inversion Edit
97 7346813 46, XX, inv(7)(q11q22) pat phenotypically normal; spontaneous miscarriages in 3/7 pregnancies q11 q22     7346813, 6392555, 4040824, 3491573, 3546078, 7717416 II-11 [7346813], reference 22 [6392555], ref 27 [3491573], reference 63 [7717416] father had same inversion Edit
98 3770747 46, XX, inv(7)(q11q22) [86%]/ 45, X, inv(7)(q11q22) [14%] Turner syndrome: hypoplastic genitalia, irregular menstruation, mental development delay; seizure disorder q11 q22     3770747, 7717416 case 8 mother carried same inversion Edit
99 6392555_4 46, XY, inv(7)(q11q22) mat undescended testis q11 q22     6392555, 3491573, 3770747, 3546078, 7717416 case 4 [6392555], ref 19 [3491573], case 7 [3770747], reference 10 [7717416] mother, maternal uncle, half brother and half sister carried same inversion and were all unaffected Edit
100 6463033_UK16 4?, X?, inv(7)(q11q22) phenotype not given q11 q22     6463033, 7717416 lab UK16 [6463033] prenatal diagnosis Edit