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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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11p130

11p13
  • Al-Awadi S A, Teebi A S, Sundareshan T S: Complex chromosomal rearrangement involving chromosomes 11, 13, 14 and 18 resulting in monosomy for 13q32 to qter. Ann. Genet. 28:181-184, 1985. [PubMed: 3879154]
    These translocations were de novo.
    46,XY,t(11;13)(p13;q32)del(13)(q32 -> qter),t(14;18)(q32;q21).
    Patient was 5 years old; was referred because of unusual facial features, speech delay, and borderline psychomotor retardation.
    Aberration: Simple translocation
    Index Terms: Face ... anomalies,Language deficit ... delayed
    Negative band
  • Babu Rao V, Lily K, Korgaonkar S, Ghosh K, Dipika M.: Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver-Russel syndrome patient. Ann. Genet. 46:475-478, 2003. [PubMed: 14659785]
    46,XY,der t(11;16)(p13;q24.3)pat.
    The 7 month old proband had several features of the SRS.
    Aberration: Reciprocal translocation
    MIM#: 108450
    Index Terms: Silver-Russel syndrome
  • Barbi G, Steinbach P, Vogel W: Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites. Hum. Genet. 68:290-294, 1984. [PubMed: 6239815]
    Aberration: Fragile sites
    Negative band
  • 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(11;18)(p13;q23).
    Aberration: Reciprocal translocation
    Negative band
  • Carpenter N J, 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. 1309.
    46,XY,inv(11)(p13q25)pat.
    Aberration: Inversion pericentric
    Negative band
  • Choufani S, Shuman C, Weksberg R.: Beckwith-Wiedemann syndrome. AJMG Part C: 154C: 343-354, 2010. [PubMed: 20803657]
    Li M, Squire J A, Weksberg R.: Molecular genetics of Wiedemann-Beckwith syndrome. AJMG 79:253-259, 1998. [PubMed: 9781904]
    Weksberg R, Glaves M, Anderson I J, Whiteman D A H, Chernos J E, Fowlow S B, Hoyme E, Teshima I: Molecular analysis of chromosome 11 in three patient with 11p duplications and features of overgrowth. AJHG 49 (Suppl.):309, 1991.
    Weksberg R, Shuman C, Beckwith J B.: Beckwith-Wiedemann syndrome. Europ. J. Hum. Genet. 18: 8-14, 2010. [PMC free article: PMC2987155] [PubMed: 19550435]
    Patient 1 was reported earlier by Anderson et al, AJHG 45:269, 1989.
    Patient 2 was reported earlier by Chernos et al, AJHG:A101, 1990.&Patient 3 had features of Beckwith-Wiedemann syndrome.
    Aberration: Duplication
    MIM#: 130650
    Chromosomal Aneuploidy: 11p+
    Index Terms: Overgrowth
    Negative band
  • Couillin P, Azoulay M, Henry I, Ravise N, Grisard M C, Jeanpierre C, Barichard F, Metezeau P, Candelier J J, Lewis W, Van Heyningen V, Junien C: Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region. Hum. Genet. 82:171-178, 1989. [PubMed: 2722195]
    MIM#: 194070
    Negative band
  • Cowell J K, Wadey R B, Buckle B B, Pritchard J: The aniridia-Wilms'' tumour association: molecular and genetic analysis of chromosome deletions on the short arm of chromosome 11. Hum. Genet. 82:123-126, 1989. [PubMed: 2542153]
    Aberration: Interstitial deletion
    MIM#: 194070
    Chromosomal Aneuploidy: 11p-
    Negative band
  • Crolla J A, Cawdery J E, Oley C A, Young I D, Gray J, Fantes J, van Heyningen V.: A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J. Med. Genet. 34:207-212, 1997. [PMC free article: PMC1050894] [PubMed: 9132491]
    Crolla J A, Cross I, Atkey N, Wright M, Oley C A.: FISH studies in a patient with sporadic aniridia and t(7;11)(q31.2;p13). J. Med. Genet. 33: 66-68, 1996. [PMC free article: PMC1051815] [PubMed: 8825052]
    Crolla J A, van Heyningen V.: Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. AJHG DOI=0002-9297/2002/7105; 71:1138-1149, 2002. [PMC free article: PMC385089] [PubMed: 12386836]
    46,XX,t(7;11)(q31.2;p13).ish t(7;11)(FO2121+;FAT5+,D11S324+,B2.1).
    Patient was 2 years old with bilateral sporadic aniridia.
    Another example of aniridia caused by position effect.
    19 patients were analysed.
    All patients had isolated or familial aniridia with one or more WAGR characteristics.
    FISH markers used were FO2121, PAX6 (aniridia), D11S324, and WT1 (Wilms'' tumor disposition).
    In the 2002 study, 77 patients with aniridia were studied.
    Patient No. 1=46,XX,t(7;11)(q31.2;p13).,Patient No. 13, 74=46,XY or XX,del(11)(p13p15.1).,Patient Nos. 14, 33=46,XY,del(11)(p13p14.2).,Patient No. 15=46,XX,del(11)(p11.2p14.1).,Patient No. 21=46,XX,t(11;13)(p?13;q?)de novo.,Patient Nos. 34, 47=46,XY,del(11)(p13p14.3).,Patient No. 36=46,XY,del(11)(p11.2p14).,Patient No. 41=46,XX,del(11)(p12p15.1).,Patient Nos. 42, 73=46,XX,del(11)(p11.2p13).,Patient No. 51=46,XX,del(11)(p12p14).,Patient No. 61=46,XX,inv(11)(p13q13)mat.,Patient No. 85=46,XY,dir ins(12;11)(q24.11;p13p15.1)de novo.,Patient No. 95=46,XX,t(2;11)(q33;q25)del(11)(p?12p?13)de novo.
    30/77 were chromosomally abnormal:
    Aberration: ID,RT
    Chromosomal Aneuploidy: 11p-
    Index Terms: Aniridia,WAGR locus
  • Erez A, Li J, Geraghty M T, Ben-Shachar S, Cooper M L, Mensing D E, Vonalt K D, Ou Z, Pursley A N, Chinault A C, Patel A, Cheung S W, Sahoo T.: Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency - case report and review of the literature. AJMG part A: 152A: 732-736, 2010. [PubMed: 20186791]
    46,XX,del(11)(p12p14)/46,XX.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11p-
    Index Terms: Dopamine beta-hydroxylase deficiency (DBH)
  • Fantes J, Redeker B, Breen M, Boyle S, Brown J, Fletcher J, Jones S, Bickmore W, Fukushima Y, Mannens M, Danes S, van Heyningen V, Hanson I.: Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. Hum. Mol. Genet. 4:415-422, 1995. [PubMed: 7795596]
    Fukushima Y, Hoovers J, Mannens M, Wakui K, Ohashi H, Ohno T, Ueoka Y, Niikawa N: Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. Hum. Genet. 91:205-209, 1993. [PubMed: 8478003]
    46,XY,der inv(11)(p13)mat and pat.
    The propositus was evaluated at 4 months of age. Frequent winks, nystagmus, total bilateral aniridia, and macular hypoplasia were noted.
    Aberration: Inversion paracentric
    MIM#: 106200
    Index Terms: Aniridia ... familial,Nystagmus,Position effect in aniridia
  • Fantes J A, Bickmore W A, Fletcher J M, Ballesta F, Hanson I M, van Heyningen V: Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. AJHG 51:1286-1294, 1992. [PMC free article: PMC1682907] [PubMed: 1334370]
    Mother, MAFRA and son, GIFRA.
    The child had a submicroscopic 11p13 deletion with inherited aniridia, Wilms tumor, and horseshoe kidney. Mother had aniridia and deletion of the aniridia candidate gene (AN2) and the Wilms tumor predisposition gene (WT1).,It appears that a homologue of the mouse Pax-6 gene is a strong candidate for the AN2 gene.
    Aberration: Interstitial deletion
    MIM#: 194070
    Chromosomal Aneuploidy: 11p-
    Index Terms: Aniridia,Wilms tumor
    Negative band
  • Gessler M, Simola K O J, Bruns G A P: Cloning of breakpoints of a chromosome translocation identifies the AN2 locus. Science 244:1575-1578, 1989. [PubMed: 2544995]
    Cell line DG-85
    t(11;22)(p13;q12.2).
    Patient H.V.
    t(4;11)(q23;p13).
    Probes used were 403, 495, 582 from the WAGR deletion.
    Aberration: Simple translocation
    Negative band
  • Gessler M, Thomas G H, Couillin P, Junien C, McGillivray B C, Hayden M, Jaschek G, Bruns G A P: A deletion map of the WAGR region on chromosome 11. AJHG 44:486-495, 1989. [PMC free article: PMC1715590] [PubMed: 2539014]
    Utilizing 31 DNA probes the WAGR deletion region 11p13 has been subdivided into 16 intervals. Specific intervals have been correlated with phenotypic features, leading to the identification of individual subregions for the aniridia and Wilms tumor loci.
    Aberration: Interstitial deletion
    MIM#: 194070
    Chromosomal Aneuploidy: 11p-
    Negative band
  • Glaser T, Driscoll D J, Antonarakis S E, Valle D, Housman D: A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome. Genomics 5:880-893, 1989. [PubMed: 2574149]
    del(11)(p14.3::p13).
    Aberration: Interstitial deletion
    MIM#: 194070
    Chromosomal Aneuploidy: 11p-
    Negative band
  • Gribble S M, Kalaitzopoulos D, Burford D C, Prigmore E, Selzer R R, Ng B L, Matthews N S W, Porter K M, Curley R, Lindsay S J, Baptista J, Richmond T A, Carter N P.: Ultra-high resolution array painting facilitates breakpoint sequencing. J. Med. Genet. 44: 51-58, 2007. [PMC free article: PMC2597908] [PubMed: 16971479]
    Case 4 (case 2 in an earlier paper of Baptista et al Europ. J. Hum. Genet. 13: 1205-1212, 2005).
    46,XX,t(11;17)(p13;p13.1)mat.ish t(11;17)(RP11-2G8sp;CTD-3083J7sp).
    Aberration: Simple translocation
    Index Terms: Array painting
  • Hotta Y, Fujiki K, Ishida N, Kato K, Nakajima A, Takamatsu H.: High resolution G-banding analysis in aniridia. Ophthal. Paediat. Genet. 8:145-150, 1987. [PubMed: 2830569]
    Patient 1:
    46,XY,del(11)(p13->p14).
    Patient was a newborn and noted to have photophobia; Wilms'' tumor was confirmed.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11p-
    Index Terms: Aniridia
    Negative band
  • Huff V, Meadows A, Riccardi V M, Strong L C, Saunders G F: Parental origin of de novo constitutional deletions of chromosomal band 11p13. AJHG 47:155-160, 1990. [PMC free article: PMC1683741] [PubMed: 1971994]
    Huff V, Miwa H, Haber D A, Call K M, Housman D, Strong L C, Saunders G F: Evidence for WT1 as a Wilms tumor (WT) gene: intragenic germinal deletion in bilateral WT. AJHG 48:997-1003, 1991. [PMC free article: PMC1683037] [PubMed: 1673293]
    In 7/8 cases the deletion was paternal in origin, and the remaining was maternal.
    Aberration: Interstitial deletion
    MIM#: 194070
    Chromosomal Aneuploidy: 11p-
    Negative band
  • Junien C, Turleau C, de Grouchy J, Said R, Rethore M O, Tenconi R, Dufier J L: Regional assignment of catalase (cat) gene to band 11p13. Association with the aniridia-Wilms'' tumor-gonadoblastoma (Wagr) complex. Ann. Genet. 23:105-108, 1981. [PubMed: 6252821]
    Index Terms: Aniridia,Gonadoblastoma,Wilms tumor
    Negative band
  • Kaneko Y, Egues M C, Rowley J D: Interstitial deletion of short arm of chromosome 11 limited to Wilms'' tumor cells in a patient without aniridia. Cancer Res. 41:4577-4578, 1981. [PubMed: 6272980]
    Aberration: Interstitial deletion
    Index Terms: Aniridia,Wilms tumor
    Negative band
  • Kousseff B G, Agatucci A: Aniridia-Wilms'' tumor association. J. Ped. 98:676-677, 1981. [PubMed: 6259310]
    Yunis J J: Reply. J. Ped. 98:677, 1981.
    46,XX,t(11;16)(11pter -> 11p1400::11p130 -> 11qter;16qter -> 16p13 or pter::11p13?).&"46,XY,-11,+der del(11)t(11;16)(11pter -> 11p1400::11p130 -> 11qter)."
    Aberration: Simple translocation
    Index Terms: Aniridia,Wilms tumor
    Negative band
  • Lennon P A, Scott D A, Lonsdorf D, Wargowski D S, Kirkpatrick S, Patel A, Cheung S W.: WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH. AJMG Part A DOI=10.1002/ajmg.a.31229, 2006. [PubMed: 16646034]
    46,XX,t(11;15)(p13;p11.2)de novo,del(11)(FAT5 (31.8 Mb), FO1212 (31.8 Mb), P60 (32.3 Mb), and WT1 (32.4 Mb).,46,XX,t(11;15)(11qter->11p13::15p11.2->15pter; 11pter->11p14::15p11.2->15qter).
    The infant patient with aniridia, bilateral posterior capsular cataracts, nystagmus, left-sided glaucoma, bilateral ptosis, microcephaly, mild unilateral hydronephrosis, poor linear growth, and gross motor delay is presented.
    Aberration: Simple translocation
    MIM#: 194070
    Index Terms: WAGR syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Llerena J C, Jr., Cabral de Almeida J C.: Cytogenetic and molecular contributions to the study of mental retardation. Genet. Mol. Biol. 21:273-279, 1998.
    46,XX,t(11;13)(p13;q33)
    The patient had isolated aniridia without MR.
    Aberration: Reciprocal translocation
  • Magenis R E, Donlon T A, Tomar D R: Localization of the beta-globin gene to 11p15 by in situ hybridization: utilization of chromosome 11 rearrangements. Hum. Genet. 69:300-303, 1985. [PubMed: 3988280]
    46,XY,inv(11)(p13q24.2).&46,XY,rec(11)inv(11)(p13q24.2).
    Aberration: Inversion pericentric
    MIM#: 141900
    Negative band
  • Matsunaga E: Genetics of Wilms'' Tumor. Hum. Genet. 57:231-246, 1981. [PubMed: 6265341]
    Index Terms: Wilms tumor
    Negative band
  • Nakagome Y, Ise T, Sakurai M, Nakajo T, Okamoto E, Takano T, Nakahori Y, Tsuchida Y, Nagahara N, Takada Y, Ohsawa Y, Sawaguchi S, Toyosaka A, Kobayashi N, Matsunaga E, Saito S: High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities. Hum. Genet. 67:245-248, 1984. [PubMed: 6088386]
    Patient No. 2555.
    46,XX and XY,del(11)(p13).&del(11)(p13p13).
    Aberration: Interstitial deletion
    MIM#: 194070
    Index Terms: Aniridia,Wilms tumor
    Negative band
  • Niikawa N, Fukushima Y, Taniguchi N, Iizuka S, Kajii T: Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity. Hum. Genet. 60:373-375, 1982. [PubMed: 7106775]
    Patient 1, H.T., was 3 years old.
    46,XX,dir ins(11;2)(11pter -> 11p13::2q13 -> 2q23::11p13 -> 11qter;2pter -> 2q13::2q23 -> 2qter).,Karyotypes of the parents of both patients were normal.
    Aberration: Direct insertion between two chromosomes
    Index Terms: Erythrocyte catalase activity
    Negative band
  • Orkin S H: Wilms'' tumour: molecular evidence for the role of chromosome 11. Cancer Surveys 3:467-477, 1984.
    Aberration: Interstitial deletion
    MIM#: 194070
    Index Terms: Wilms tumor
    Negative band
  • Perez de Nanclares G, Martinez F, Bilbao J R, Navajas A, Martinez R, Lopez-Aristegui M A, Castano L.: A submicroscopic deletion of 11p13 associated with the WAGR syndrome. Clin. Genet. 63:319-322, 2003. [PubMed: 12702167]
    A semiquantitative PCR method allowed the detection of single gene doses of WT1 and PAX6 loci.
    Aberration: Interstitial deletion
    MIM#: 194072
    Chromosomal Aneuploidy: 11p-
    Index Terms: WAGR syndrome
  • Pettenati M J, Weaver R G, Burton B K: "Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia." AJMG 34:230-232, 1989. [PubMed: 2817003]
    46,XX,t(5;11)(q13.1;p13)pat.
    A father and daughter with isolated aniridia and the translocation are reported.
    A break at 11p13 appears to be associated with isolated aniridia.
    Aberration: Reciprocal translocation
    MIM#: 106210
    Index Terms: Aniridia
  • Punnett A, Teshima I, Heon E, Budning A, Sutherland J, Gallie B L, Chan H S L.: Unique insertional translocation in a childhood Wilms'' tumor survivor detected when his daughter developed bilateral retinoblastoma. AJMG DOI=10.1002/ajmg.a.20116;120A:105-109, 2003. [PubMed: 12794701]
    Aberration: IX,ID
    Chromosomal Aneuploidy: 13q-
    Index Terms: Wilms' tumor (WT1),Retinoblastoma (RB1)
  • Ramadevi A R, Prabhakara K, Dutta U.: Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones. Ann. Genet. 45:13-15, 2002. [PubMed: 11934384]
    Proband=46,XX,der t(11;21)(p13;q22)pat.,Father=46,XY,t(11;21)(P13;q22).
    The proband, a 5-year-old girl, was referred for karyotyping with a history of regression of milestones.
    Aberration: Reciprocal translocation
  • Riccardi V M, Hittner H M, Francke U, Yunis J J, Ledbetter D H, Borges W: The Aniridia-Wilms tumor association: The critical role of chromosome band 11p13. Cancer Genet. Cytogenet. 2:131-137, 1980.
    Case 1, ESC(TCH622644) in this report.
    46,XY,del(11)(p1302p14.1)inv(7)(q21.2q31).
    Cases 2 and 3 in this report. Parents'' karyotypes were normal.
    46,XX,del(11)(p1300p15.1).
    Aberration: Interstitial deletion
    Index Terms: Aniridia,Wilms tumor
    Negative band
  • Slater R M, de Kraker J: Chromosome number 11 and Wilms'' tumor. Cancer Genet. Cytogenet. 5:237-245, 1982. [PubMed: 6279277]
    Index Terms: Wilms tumor
    Negative band
  • Speleman F, Mannens M, Redekar B, Vercruyssen M, Van Oostveldt P, Leroy J, Slater R: Characterization of a de novo duplication of 11p14 to p13, using fluorescent in situ hybridization and Southern hybridization. Cytogenet. Cell Genet. 56:129-131, 1991. [PubMed: 2055105]
    46,XY,dir dup(11)(pter -> p13::p15.1 -> qter).
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 11p+
    Index Terms: FISH
    Negative band
  • Stern R J, Hunter W S, Moross T, Gardner H A: Prenatal diagnosis of del(11)(p13p15). Prenat. Diag. 8:1-6, 1988. [PubMed: 3344262]
    Patient K.J.,140444, with a history of psoriasis.
    46,XY,del(11)(p13p15)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11p-
    Negative band
  • Turleau C, de Grouchy J, Tournade M F, Gagnadoux M F, Junien C: Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature. Clin. Genet. 26:356-362, 1984. [PubMed: 6094051]
    del (11p13 or 11p13-p14).
    Aberration: Interstitial deletion
    MIM#: 194070
    Index Terms: Aniridia
    Negative band
  • van Heyningen V, Bickmore W A, Seawright A, Fletcher J M, Maule J, Fekete G, Gessler M, Bruns G A P, Huerre-Jeanpierre C, Junien C, Williams B R G, Hastie N D: Role for the Wilms tumor gene in genital development? PNAS 87:5383-5386, 1990. [PMC free article: PMC54328] [PubMed: 1973540]
    MIM#: 194070
    Negative band
  • Waziri M: Reply to the letter to the Editor. J. Ped. 104:485, 1984.
    Waziri M, Patil S R, Hanson J W, Bartley J A: Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome. J. Ped. 102:873-876, 1983. [PubMed: 6854451]
    46,XY,inv(11)(p13q23.3).,46,XY,rec(11)dup(p)(p13->p15)del(q)(q23->q25).
    Aberration: Inversion pericentric
    MIM#: 130650
    Index Terms: Beckwith-Wiedemann syndrome
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106684
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