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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

06q270

6q27
  • Anderlid B-M, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M.: Subtelomeric rearrangements detected in patients with idiopathic mental retardation. AJMG 107:275-284, 2002. [PubMed: 11840483]
    Schoumans J, Anderlid B-M, Blennow E, Teh B T, Nordenskjold M.: The performance of CGH array for the detection of cryptic constitutional chromosome imbalances. J. Med. Genet. 41:198-202, 2004. [PMC free article: PMC1735686] [PubMed: 14985382]
    Patient 4:46,XY,del(6)(qter)(TelVysion 6q, Vysis).
    Patient, born in 1995, had severe MR, and several dysmorphic features.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6q-
    Index Terms: CGH array
  • Astbury C, Christ L A, Aughton D J, Cassidy S B, Kumar A, Eichler E E, Schwartz S.: Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. in Med. 6:81-89, 2004. [PubMed: 15017330]
    Aberration: Reciprocal translocation
    Index Terms: SMOC2
  • Same entry as in 02q350,03p210 (Boue and Gallano, 1984).
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    t(6;8)(q27;q12); t(6;9)(q27;p22); t(6;10)(q27;q11).
    Aberration: Reciprocal translocation
    Negative band
  • Brusnicky J, van Heerden K M M, de Jong G, Cronje A S, Retief A E: "Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2)." J. Med. Genet. 23:435-445, 1986. [PMC free article: PMC1049781] [PubMed: 3783620]
    Several generations were studied; a partial monosomy of 10q252 to qter was found in the proband.
    46,XX and XY,t(6;10)(q27;q25.2).&"46,XX or XY,-10,+der(10),t(6;10)(10pter -> 10q25.2::6q27 -> 6qter)mat and pat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 10q-
    Negative band
  • Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois M-C, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A.: A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation. Europ. J. Hum. Genet. 9:319-327, 2001. [PubMed: 11378819]
    Family 1:
    Father=46,XY,t(6;10)(q27;q26.3).,Son=46,XY,der(10)t(6;10)pat.,Daughetr=46,XX,der(6)t(6;10)pat.
    There were MCA in both the children.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6q-;6q+;10q-;10q+
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    Registry No. 1335 in this report.
    46,XX,der(6),t(6;7)(q27;q31)mat.
    Aberration: Reciprocal translocation
    Index Terms: Metabolic disorders
    Negative band
  • De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]
    t(6;12)(q27;p11).
    Aberration: Reciprocal translocation
    Negative band
  • de Vries B B A, White S M, Knight S J L, Regan R, Homfray T, Young I D, Super M, McKeown C, Splitt M, Quarrell O W J, Trainer A H, Niermeijer M F, Malcolm S, Flint J, Hurst J A, Winter R M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:145-150, 2001. [PMC free article: PMC1734836] [PubMed: 11238680]
    Fauth C, Zhang H, Harabacz S, Brown J, Saracoglu K, Lederer G, Rittinger O, Rost I, Eils R, Kearney L, Speicher M R.: A new strategy for the detection of subtelomeric rearrangements. Hum. Genet. 109:576-583, 2001. [PubMed: 11810269]
    Knight S J L, Regan R, Nicod A, Horsley S W, Kearney L, Homfray T, Winter R M, Bolton P, Flint J.: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681, 1999. [PubMed: 10568569]
    7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases. These two citations have been merged by me (DSB) as I think they are reporting on the same case(s) even though not cross-referenced in the 2001 paper!

    Oostlander A E, Meijer G A, Ylstra B.: Microarray-based comparative genomic hybridization and its applications in human genetics. Clin. Genet. 66:488-495, 2004. [PubMed: 15521975]
    46,XY,der(6)t(6;12)(q27;p13.3).,46,XXorY,der(12)t(6;12)(q27;p13.3).
    Pedigree ID 2.1:
    46,XY,der(12)t(6;12)(q27;p13.3)mat.
    The patient was 8 years old with moderate MR. Phenotypic anomalies include microcephaly, high palate, clinodactyly, anteverted nares, down-turned mouth, and growth retardation.
    Size of 6q+ is estimated to be about 12.7-23.2 cM.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6q+;12p-
  • de Vries B B A, Winter R, Schinzel A, van Ravenswaaij-Arts C.: Telomeres: a diagnosis at the end of the chromosomes. J. Med. Genet. 40:385-398, 2003. [PMC free article: PMC1735506] [PubMed: 12807958]
    De Vries et al (2003) review the data on subtelomeric deletion syndromes quite extensively.

    Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli F D, Bonaglia M C, Bedeschi MF, Borgatti R.: Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 38:417-420, 2001. [PMC free article: PMC1734891] [PubMed: 11424927]
    Case 2=der(6q)t(6q;19p)pat; monosomy 6q=0 cM)bp:770E8).
    Positive family history, case ascertained prenatally, child 1 year old with MCA.
    Case 9=del(6q)de novo, >20 cM(D6S1581+;D6S305-). Paternal origin.
    Patient was 8 years old at the time of initial karyotyping and 14 at the time of telomere test, had moderate MR, hypotonis, skeletal anomalies, and epilepsy.
    Aberration: RT,TD
    Chromosomal Aneuploidy: 6q-;19p+
    No band
  • Eash D, Waggoner D, Chung J, Stevenson D, Martin C L.: Calibration of 6q subtelomere deletions to define genotype-phenotype correlations. Clin. Genet. 67:396-403, 2005. [PubMed: 15811006]
    Cases 1 and 2:46,X(X/Y),del(6q)de novo.,Case 3:46,XX,der(6)t(1;6)de novo,Cases 4 and 5 are sibs:46,XX,der(6)t(6;21)
    Deletions range in size from approximately 400 kb to 8Mb.
    Aberration: TD,RT
    Chromosomal Aneuploidy: 6q-
  • Faed M J W: Personal communication, 1980.
    Faed M J W, Robertson J, Field M A S, Mellon J P: A chromosome survey of a hospital for the mentally subnormal. Clin. Genet. 166:191-204, 1979. [PubMed: 158447]
    Case 18 in this report.
    46,XY,t(6;9)(q27;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Ferguson-Smith M A: Gene mapping by exclusion. BD-OAS XI(No. 3):126-129, 1975. [PubMed: 1203470]
    t(6;20)(q27;p11).
    Aberration: Simple translocation
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XY,t(6;12)(q27;p11).,46,XX,-6,+der(6)t(6;12)(6pter->6q27::12p11->12pter)pat.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XX,t(6;13)(q27;q14).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Gregoire M J, Boue J, Junien C, Pernot C, Gilgenkrantz S, Zergollern L: Duplication 15q22 to 15qter and its phenotypic expression. Hum. Genet. 59:429-433, 1981. [PubMed: 7333596]
    46,XY,t(6;15)(q27;q23).,46,XY,der(6)der(15)t(6;15)(q27;q23)pat.
    Case 2.
    46,XX,-6,+der(6)t(6;15)(6pter->6q27::15q23->15qter)pat.
    Aberration: Simple translocation
    Negative band
  • Hamerton J L, Canning N, Ray M, Smith S: A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin. Genet. 8:223-243, 1975. [PubMed: 1183067]
    Case 9023 (040572) in this report.
    46,XY,t(6;15)(q27;q22).
    Aberration: Simple translocation
    Negative band
  • Hattori H, Hayashi K, Okuno T, Temma S, Fujii T, Ochi J, Mikawa H: "de novo reciprocal translocation t(6;14)(q27;q13.3) in a child with infantile spasms." Epilepsia 26:310-313, 1985. [PubMed: 4006889]
    46,XY,t(6;14)(q27;q13.3).
    Aberration: Reciprocal translocation
    Negative band
  • Iinuma K, Nakagome Y, Higurashi M: "A de novo translocation t(6q+;15q-) in a boy with trisomy 21." Jpn. J. Hum. Genet. 20:147-151, 1975. [PubMed: 1238781]
    47,XY,+21,t(6;15)(q27;q11).,47,XY,+21,t(6;15)(6pter->6q27::15q11->15qter;,15pter->15q11::6q27->6qter).
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Ion A, Copin H, Barnoux M, Ajzenberg C, Lesourd A, Cussenot O, Lubetzki J, Telvi L.: Abnormal sex differentiation and multiple congenital abnormalities in a subject harbouring an apparently balanced (6;8) translocation. J. Med. Genet. 37:972-974, 2000. [PMC free article: PMC1734497] [PubMed: 11186944]
    46,XY,t(6;8)(q27;q13.2).
    The 34 year old Algerian patient was being assessed for infertility and learning disability.
    Aberration: Reciprocal translocation
    No band
  • Kogame K, Kudo H: "Partial 8 trisomy by 3:1 segregation of balanced maternal translocation t(6q+;8q-)." Jpn. J. Hum. Genet. 30:239-248, 1985. [PubMed: 3834205]
    Patient Y.S. died after 9 days.
    46,XX,t(6;8)(q27;q11.23).&"47,XX,+der(8),t(6;8)(q27;q11.23)mat."
    Aberration: Simple translocation
    Negative band
  • Kondo I, Shimizu N: Mapping of the human gene for epidermal growth factor receptor (EGFR) on the p13q22 region of chromosome 7. Cytogenet. Cell Genet. 35:9-14, 1983. [PubMed: 6297856]
    Mahoney M J: Personal communication, 1978.
    46,XX,t(6;7)(6pter->6q27::7q22->7qter;7pter->7q22::6q27->6qter).
    Aberration: Reciprocal translocation
    Negative band
  • Kraus J, Lederer G, Keri C, Seidel H, Rost I, Wirtz A, Fauth C, Speicher M R.: A familial unbalanced subtelomeric translocation resulting in monosomy 6q27->qter. J. Med. Genet. 40:e48, 2003. [PMC free article: PMC1735417] [PubMed: 12676921]
    II.1, III.2, and III.5=46,XX,der(6)del(16)t(6;16)(q27;p13.12).,IV.5=46,XY,der(6)t(6;16)(q27;p13.12)mat.
    Owing to the history of unexplained mild MR and a child (IV.5) who died with MCA led to the cytogenetic evaluation.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6q-;16p+
  • Kruger G, Gotz J, Kvist U, Dunker H, Erfurth F, Pelz L, Zech L: "Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13)." AJMG 32:411-416, 1989. [PubMed: 2729360]
    46,XX or XY,t(6;7)(q27;p13).&46,XX,-6,+der(6)(6pter -> 6q27::7p13 -> 7pter)mat.
    Aberration: Reciprocal translocation
    MIM#: 175700
    Chromosomal Aneuploidy: 6q-,7p+
    Negative band
  • Makino T, Tabuchi T, Nakada K, Iwasaki K I, Tamura S, Iizuka R: Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int. J. Fertil. 35:266-270, 1990. [PubMed: 1980661]
    46,XY,t(6;9)(q27;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Meer B, Wolff G, Back E: Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations. Hum. Genet. 58:221-225, 1981. [PubMed: 7197256]
    Proband was a 31 year old mother with four miscarriages.
    46,XX,t(6;12)(q27;q21); inv ins(7;8)(p14;q22q13).
    Aberration: Simple translocation
    Negative band
  • Mennuti M T, Jingeleski S, Schwarz R H, Mellman W J: An evaluation of cytogenetic analysis as a primary tool in the assessment of recurrent pregnancy wastage. Obst. Gynecol. 52:308-313, 1978. [PubMed: 360121]
    Case 11; A 32 year old woman with six spontaneous abortions.
    46,XX,t(6;19)(q27;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Midro A T, Stengel-Rutkowski S, Stene J: Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 41:113-122, 1992. [PubMed: 1563084]
    Family 6: Patient L.M.
    46,XX,t(6;13)(q27;q12)mat.
    Risk estimates for carriers detected among couples with reproductive failures are presented.
    Aberration: Reciprocal translocation
    Negative band
  • Nakagome Y, Iinuma K, Matsui I: Three translocations involving C- or G-group chromosomes. Personal communication March 31, 1973,1975. [PMC free article: PMC1013011] [PubMed: 4714586]
    46,XX,rcp(6;18)(q27;q11).,46,XX,rcp(6;18)(6pter->6q27::18q11->18qter;,18pter->18q11::6q27->6qter).,46,XX and XY,der(6)der(18)rcp(6;18)(q27;q11)mat.,46,XX and XY,-6,+der(6)rcp(6;18)(q27;q11)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Ness G O, Lybaek H, Houge G.: Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. AJMG DOI=10.1002/ajmg.10593; 113:125-136, 2002. [PubMed: 12407702]
    Case 11:46,XY,der(6)t(6;9)(q27;p12),tel9px3
    Patient, born in 2000, had neonatal hypotonia with feeding problems, ASD, mild dysmorphic features (transverse plamar crease, small mandible, five-finger clinodactyly, broad-based bulbous nose, antimongoloid eye slant, low-set cupped ears), still no obvious MR (age 5 months).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6q-;9p+
    Index Terms: CGH
  • Niebuhr E: "A familial translocation t(6q+;8q-) identified by fluorescence microscopy." Humangenetik 18:189-192, 1973. [PubMed: 4737101]
    46,XX,t(6;8)(q27;q12).,46,XX and XY,der(6)der(8)t(6;8)(q27;q12)mat.
    Aberration: Simple translocation
    Negative band
  • Ninomiya S, Narahara K, Yokoyama Y, Tsuji K, Ito S, Akahori W, Akahori T, Seino Y.: Interchange trisomy 9 due to maternal t(6;9) translocation. Acta Paediat. Jpn. 36:519-522, 1994. [PubMed: 7825455]
    Patient=47,XY,-6,+der(6),+der(9)t(6;9)(q27;q21.1)mat.,Second pregnancy (af)=46,XX,der t(6;9)(q27;q21.1)mat.
    The newborn died three hours after birth. He had IUGR and MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9q+;6q-
  • Osztovics M K, Toth S P, Wessely J A: Cytogenetic investigations in 418 couples with recurrent fetal wastage. Ann. Genet. 25:232-236, 1982. [PubMed: 6985013]
    46,XX,t(6;19)(q27;p13 or q13)mat.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Pellestor F, Sele B, Jalbert H, Jalbert P: Direct segregation analysis of reciprocal translocations: a study of 283 sperm karyotypes from four carriers. AJHG 44:464-473, 1989. [PMC free article: PMC1715574] [PubMed: 2818710]
    Mr. V.I. was 35 years old and diagnosed because his wife had three miscarriages, but has two normal children.
    46,XY,t(6;7)(q27;q221).
    The distribution of imbalances in sperm is 72% adjacent I, 18.5% adjacent II, and 9.5% 3:1 segregations. There is postzygotic elimination process.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... karyotypes
    Negative band
  • Sauter S M, Bohm D, Bartels I, Burfeind P, Laccone F A, Neesen J, Wilken B, Liehr T, Zoll B.: Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay. AJMG Part A: 143A: 1091-1099, 2007. [PubMed: 17431920]
    46,XX,der(6)t(6;19)(q?27;q13.42)
    Patient was 2 7/12 years old.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6q-;19q+
  • Scarbrough P R, Daw J, Carroll A J, Finley S C: "An unbalanced (6q;13q) translocation in a male with clinical features of Ehlers-Danlos type II syndrome." J. Med. Genet. 21:226-228, 1984. [PMC free article: PMC1049274] [PubMed: 6748022]
    45,XY,-6,-13,+der(6),t(6;13)(6pter -> 6q27::13q11 -> 13qter).
    Aberration: Simple translocation
    MIM#: 130010
    Negative band
  • Schinzel A A: "Incomplete trisomy 22. II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)." Hum. Genet. 56:263-268, 1981. [PubMed: 7239509]
    46,XX,t(6;22)(q27;q13).,46,XX,der(6)der(22)t(6;22)(q27;q13)mat.,47,XY,der(6)t(6;22)(6pter->6q27::22q13->22qter)mat.,There was a history of five miscarriages, both patients died after 8 and 1 day(s) respectively. Patients presented with intrauterine growth retardation, congenital hydrocephalus, cleft palate, genital hypoplasia with cryptorchidism and hypospadias, and similar facial features including mongoloid position of eyeaxes, hypertelorism, small nose with prominent bridge, prominent upper lip, and small mandible.
    Aberration: Simple translocation
    Index Terms: Cleft lip/palate,Cryptorchidism, (see also Testes, undescended),Eye ... mongoloid eye slits,Face ... anomalies,Genitalia ... hypogenitalism,Hydrocephalus,Hypertelorism,Hypospadias,Lips ... protruding upper,Mandible ... small
    Negative band
  • Ten S K, Chin Y M, Tan S K, Hassan K: "Three cases of partial trisomy 9q in one generation due to maternal reciprocal t(6;8;9) translocation." Clin. Genet. 31:359-365, 1987. [PubMed: 3621636]
    Youngest of the sibs was investigated first.
    Mother:46,XX,t(6;8;9)(q27;p23;q32q13).&"46,XX,-8,+der(8)t(6;8;9)(8qter -> 8p23::9q32 -> 9qter)mat."
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 9q+
    Negative band
  • Uchida I A, Freeman V, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 672
    46,XX,t(6;12)(q27;q21)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Uehara S, Takabayashi T, Okamura K, Yajima A: The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier. Prenat. Diag. 12:1009-1018, 1992. [PubMed: 1287636]
    46,XX,t(6;8)(q27;q24).&46,XX,+8q.
    The karyotype nomenclature of the fetus is not in conformity with ISCN (ie is it 8q+ or is it partial trisomy for 8q?).
    Aberration: Reciprocal translocation
    Negative band
  • von Dadelszen P, Chitayat D, Winsor E J T, Cohen H, MacDonald C, Taylor G, Rose T, Hornberger L K. : De novo 46,XX,t(6;7)(q27;q11.23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. AJMG 90:270-275, 20000. [PubMed: 10710222]
    46,XX,t(6;7)(q27;q11.23)de novo
    The initial abnormality on fetal ultrasound was hydrops fetalis detetcted at 30 weeks and echocardiography showed narrowing of the aorta and the pulmonary arteries. The baby died shortly after birth at 32 weeks by C-section.
    Aberration: Simple translocation
    Index Terms: Williams syndrome,Supravalvular aortic stenosis
  • Zergollern L, Hitrec V, Begovic D: Partial trisomy 15q dist-a new syndrome? Acta Med. (Yugoslavia) 36:65-75, 1982. [PubMed: 7064728]
    46,XY,t(6;15)(q27;q24).,46,XY,der(6)der(15)t(6;15)(q27;q24)pat.
    Patient died after 6 months.
    46,XX,-6,+der(6)t(6;15)(6pter->6q27::15q24->15qter)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Zhang S, Wu X, Ho Q, Zhao L: "A familial chromosomal translocation t(6q;7q) with habitual abortions." Clin. Genet. 36:1-4, 1989. [PubMed: 2766558]
    46,XX or XY,t(6;7)(6pter -> 6q27::7q32 -> 7qter;7pter -> 7q32::6q27 -> 6qter).
    Aberration: Reciprocal translocation
    Index Terms: Habitual abortions
    Negative band
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