11q250

11q25

Publication Details

  • Aalfs C M, Hoovers J M N, Wijburg F A.: Molecular analysis of a translocation (6;11)(p21;q25) in a girl with Jacobsen syndrome. AJMG 86:398-400, 1999. [PubMed: 10494099]
    46,XX,t(6;11)(p21;q25).ish del(11)(D11S1328- to D11S968-)pat.
    The proposita was 7 months old with frontal bossing, bitemporal narrowness, capillary hemangioma on the forehead, broad nasal bridge, dystopia canthorum, downward slant of the palpebral fissures, strabismus, small upper lip, and broad mouth.
    Aberration: ST,TD
    MIM#: 147791
    Chromosomal Aneuploidy: 11q-
    Index Terms: Jacobsen syndrome

  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 17825 in this report.
    46,XX,t(11;13)(q25;q12).&"46,XX,t(11;13)(11pter -> 11q25::13q12 -> 13qter;13pter -> 13q12::11q25 -> 11qter)."&"45,XX,-13,+der(11)t(11;13)(q25;q12)mat."
    Aberration: Reciprocal translocation
    Negative band

  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Stasiewicz-Jarocka B, Haus O, Assche E Van, Kostyk E, Constantinou M, Rybalko A, Krzykwa B, Marcinkowska A, Barisic I, Kucinskas V, Katuzewski B, Schwanitz G, Midro A T.: Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16. Clin. Genet. 66:189-207, 2004. [PubMed: 15324317]
    Family 3, L1997, Vilnius Collection=46,XX,t(11;16)(q25;q22)GTG.,46,XX,der(11)t(11;16)(11pter->11q25::16q22->16qter)mat.,Family 2, C1995, Zagreb,46,XY,t(11;16)(q25;q13)GTG.
    Family No. 31:
    t(11;16)(q25;q13)pat.,Fetal karyotype - 46,XX,t(11;16).
    Family ascertained because of spontaneous abortion.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q-;16q+
    Index Terms: Risk estimates
    Negative band

  • Biederman B M, Lin C C, Lowry R B, Somerville R: "Tertiary trisomy (22q11q),47,+der(22),t(11;22)." Hum. Genet. 53:173-177, 1980. [PubMed: 7358384]
    46,XX,t(11;22)(q25;q13).&"46,XX,t(11;22)(11pter -> 11q25::22q13 -> 22qter; 22pter -> 22q13::11q25 -> 11qter)."&"47,XX,+der(22),t(11;22)(q25;q13)mat."&A 13 year old girl with mental retardation, cleft palate and congenital heart disease has been described in this report.
    Aberration: Reciprocal translocation
    Index Terms: Cleft lip/palate,Congenital heart defects (cardiovascular anomalies)
    Negative band

  • Bofinger M K, Soukup S W: Cat eye syndrome. Partial trisomy 22 due to translocation in the mother. AJDC 131:893-897, 1977. [PubMed: 888806]
    46,XX,t(11;22)(q25;q13).&"47,XX,+der(22)t(11;22)(q25;q13)mat."&There is a review of findings on previously reported patients with similar chromosomal anomaly. The variability of the phenotype in cat eye syndrome has been discussed.
    Aberration: Simple translocation
    Index Terms: Cat's eye syndrome
    Negative band

  • Same entry as in 05q310,08p220,09p250 (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(11;16)(q25;q22); t(11;22)(q25;q13).
    Aberration: Reciprocal translocation
    Negative band

  • Charrow J, Balkin N E, Cohen M M: Translocations in Prader-Willi syndrome. Clin. Genet. 23:304-307, 1983. [PubMed: 6851221]
    45,XX,t(11;15)(q25;q11-12).
    Aberration: Simple translocation
    Index Terms: Prader-Willi ... Critical Region (PWCR),Willi-Prader syndrome
    Negative band

  • Cox H, Lucassen A, Rio M, Browne C, Renforth G, Craven L, Salomn T, Wilson D I.: Two children with subtelomeric 11q deletions: a description and interpretation of their clinical presentations and molecular genetic findings. Clin. Dysmorphol. DOI=10.1097/MCD.0b013e3283202a1f, 2009. [PubMed: 19077675]
    Case 1=46,XY,del(11)(q25)pat.ish,Case 2=46,XX,del(11)(q24.2-qter)
    Aberration: TD,ID
    Chromosomal Aneuploidy: 11q-

  • Davis J R, Rogers B B, Hagaman R M, Thies C A, Veomett I C: Balanced reciprocal translocations: risk factors for aneuploid segregant viability. Clin. Genet. 27:1-19, 1985. [PubMed: 3884190]
    Case 81-10.
    t(11;22)(q25;q13).
    Aberration: Reciprocal translocation
    Negative band

  • Dean J C S, Couzin D A, Gray E S, Lloyd D J, Stephen G S: Apparent Fryns'' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field. Clin. Genet. 40:349-352, 1991. [PubMed: 1756610]
    47,XY,+der(22)t(11;22)(q25;q13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Delicado A, Lopez-Pajares I, Vicente P, Gracia R: Partial trisomy 20. Ann. Genet. 24:54-56, 1981. [PubMed: 6971621]
    46,XX,t(11;20)(q25;q11).&"46,XX,der(11)der(20)t(11;20)(q25;q11)mat."&46,XY,-11,+der(11)t(11,20)(11pter -> 11q25::20q11 -> 20qter)mat.
    Patient had facial dysmorphy and congenital malformations and was 6 months old.
    Aberration: Simple translocation
    Index Terms: Facial dysmorphism
    Negative band

  • Feldman G M, Sparkes R S: The problem of partial trisomy 22 reconsidered. Hum. Genet. 45:97-101, 1978. [PubMed: 730187]
    46,XX,inv(9)(p11q13),t(11;22)(q25;q13).
    Patient V. B. in this report.
    47,XX,inv(9)(p11q13),+der(22)(11;22)(q25;q13)mat.&"47,XX,inv(9)(pter -> p11::q13 -> p11::q13 -> qter),+der(22)(11;22)(22pter -> 22q13::11q25 -> 11qter)mat."&The proband had mild mental retardation, hypotonia, and dysmorphic facies.
    Aberration: Simple translocation
    Index Terms: Facial dysmorphism,Hypotonia
    Negative band

  • Fryns J P, Eygen M V, Tanghe W, van den Berghe H: Partial trisomy 14q due to familial t(14q-,11q+) translocation. Hum. Genet. 37:105-110, 1977. [PubMed: 881188]
    46,XY,t(11;14)(q25;q23).&46,XY,der(11)(11pter -> 11q25::14q23 -> 14qter)pat.&A child (B.G.) with multiple malformations including cranial dysmorphy with hypertelorism, bilateral epicanthus, anteverted nostrils, low-set ears, and micrognathia. The neck was in constant retroflexion. Hypogenitalism was present with bilateral cryptorchidy and a small penis with short preputium. Died at age of 2.5 months.
    Aberration: Simple translocation
    Index Terms: Cryptorchidism, (see also Testes, undescended),Ears ... low-set,Epicanthal folds,Genitalia ... hypogenitalism,Hypertelorism,Micrognathia,Neck ... retroflexion,Penis ... small
    Negative band

  • Fu W N, Borgaonkar D S, Ladewig P P, Weaver J, Pomerance H H: "Structural aberrations of the long arm of chromosome No. 22. Report of a family with translocation t(11;22)(q25;q11)." Clin. Genet. 10:329-336, 1976. [PubMed: 991443]
    Kurahashi H, Nakayama T, Osugi Y, Tsuda E, Masuno M, Imaizumi K, Kamiya T, Sano T, Okada S, Nishisho I.: Deletion mapping of 22q11 in CATCH22 syndrome: Identification of a second critical region. AJHG 58:1377-1381, 1996. [PMC free article: PMC1915078] [PubMed: 8651317]
    The breakpoint in 22q appears to be between N25 and cos77 markers.

    Spiteri E, Babcock M, Kashork C D, Wakui K, Gogineni S, Lewis D A, Williams K M, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer L G, Morrow B E.: Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum. Mol. Genet. 12:1823-1837, 2003. [PubMed: 12874103]
    45,XX,-11,-22,+t(11;22)(q25;q11).,45,XX,-11,-22,+t(11;22)(11pter->11q25::22q11->22qter).,45,XX and XY,-11,-22,+der(11)t(11;22)(q25;q11)mat.
    Four members in two generations had the same translocation but showed phenotypic variation. Reports of translocations involving 22q region are reviewed. The etiology of Ph1 chromosome and 22q region is also commented on.
    Aberration: Simple translocation
    Index Terms: Philadelphia chromosome (Ph1)
    Negative band

  • Garcia-Cruz D, Garcia-Esquivel L, Rivera H, Vaca G, Rolon A, Cantu J M: "Trisomy 15q23 to qter due to a de novo t(11;15)(q25;q23) and assignment of the critical segment." Ann. Genet. 28:193-196, 1985. [PubMed: 3879157]
    Patient was 10 years and 10 months old, parental karyotypes were normal.
    46,XY,-11,+der(11),t(11;15)(q2509;q2300).
    Aberration: Simple translocation
    Negative band

  • Guichaoua M R, Speed R M, Luciani J M, Delafontaine D, Chandley A C: Infertility in human males with autosomal translocations. II. Meiotic studies in three reciprocal rearrangements, one showing tertiary monosomy in a 45-chromosome individual and his father. Cytogenet. Cell Genet. 60:96-101, 1992. [PubMed: 1611917]
    Patient F.A.
    45,XY,-11,-15,+t(11;15)(q25;q11).
    Aberration: Reciprocal translocation
    Index Terms: Meiotic ... studies
    Negative band

  • Hatanaka K, Ozaki M, Suzuki M, Murata R, Fujita H: "Trisomy 16q13 to qter in a infant from a t(11;16)(q25;q13) translocation-carrier father." Hum. Genet. 65:311-315, 1984. [PubMed: 6698553]
    46,XX,-11,+der(11)t(11;16)(11pter -> 11q25::16q13 -> 16qter)pat.
    Aberration: Simple translocation
    Negative band

  • Husslein P, Huber J, Wagenbichler P, Schnedl W: Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fert. Ster. 37:379-383, 1982. [PubMed: 7199485]
    46,XX,t(11;22)(q25;q13).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli A M, Bui T H, Caufin D, Dalpra L, Delendi N, Dutrillaux B, Fukushima Y, Geraedts J P M, de Grouchy J, Gyftodimou J, Hanley A L, Hansmann I, Ishii T, Jalbert P, Jingeleski S, Kajii T, von Koskull H, Niikawa N, Noel B, Pasquali F, Probeck H D, Robinson A, Roncarati E, Sachs E, Scappaticci S, Schwinger E, Simoni G, Veenema H, Vigi V, Volpato S, Wegner R D, Welch J P, Winsor E J T, Zhang S, Zuffardi O: "The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families." Hum. Genet. 64:343-355, 1983.
    46,XY,t(11;22)(q23.3;q11.2).&"46,XX,t(11;22)(q24;;q12)."&"46,XX and XY,t(11;22)(q25;q13) or (q25;q12)."
    The t(11;22)(q23.3;q11.2) data has been updated.
    Aberration: Reciprocal translocation
    Negative band

  • Jackson L G, 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 Nos. 938 and 939.
    46,XX,t(11;12)(q25;q24)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    M. R. C. Registry No. K186-237-71 in this report.
    46,XY,t(11;12)(q25;q13).
    Aberration: Simple translocation
    Negative band

  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Schultz L N, Schmidt P, tabor A, Bryndorf T, Christensen B, Lundsteen C.: Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH. Clin. Genet. 59:279-283, 2001. [PubMed: 11298685]
    I:2=46,XX/46,XX,t(11;18)(q25;q23).,II:2, II:3, and III:5=46,XXorY,der t(11;18)(q25;q23)mat.,III:6, III:9, IV:1, and IV:3 (Case No.45)=46,XXorY,der(18)t(11;18)(q25;q23)mat or pat.,enh(11q25q25)dim(18q23q23).,III:8 and Case No. 46=46,XX,der(11)t(11;18)(q25;q23)pat.,dim(11q25q25)enh(18q23q23).,IV:2=46,XY,-11,-14,+i(14)(q10),+der(11)t(11;18)(q25;q23)pat.
    Family was ascertained when individual III:6, then a 17 year-old, was referred for chromosome analysis because of MR. Only one signal was found for chromosome 18 per cell in the cvs for fetus IV:1 and a cryptic translocation was then suspected.
    Aberration: RT,IC
    Chromosomal Aneuploidy: 18q-;18q+11q-;

  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    mos46,XX/46,XX,t(11;22)(q25;q13.1)de novo.
    Aberration: Reciprocal translocation
    Negative band

  • Lacro R V, Jones K L, Mascarello J T, Jones O W, Wilson N, Jones M C: Duplication of distal 15q: report of five new cases from two different translocation kindreds. AJMG 26:719-728, 1987. [PubMed: 3565485]
    Family 2:
    46,XX,t(11;15)(q25;q22).&46,XX and XY,der(11)(11pter -> 11q25::15q22 -> 15qter)mat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 15q+
    Negative band

  • Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    Case 3.
    t(11;22)(q25;q13)pat.
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band

  • Mann J, Wcislo K, 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. 962.
    46,XY,t(11;20)(q25;q12).
    Aberration: Reciprocal translocation
    Negative band

  • Meyer D R, Selkin R P: Ophthalmic manifestations of the chromosome 11q deletion syndrome. Am. J. Ophthal. 115:673-674, 1993. [PubMed: 8488925]
    Mother:46,XX,t(11;14)(q25;q24).&"Patient:46,XY,-11,+der(11)t(11;14)(11pter -> 11q25::14q24 -> 14qter)mat."
    The one month old patient had MCA including trigonocephaly, poorly defined eyebrows, microblepharon, blepharoptosis, and antimongoloid slanting of eyelids with euryblepharon. Inferior exposure keratopathy was present.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q-,14q+
    Index Terms: Ophthalmologic,Blepharoptosis,Euryblepharon,Microblepharon
    Negative band

  • Narahara K, Kodama Y, Kimura S, Kamoi M, Inoue H, Kimoto H: A case of partial trisomy 22 resulting from maternal 11/12 translocation. Jpn. J. Hum. Genet. 24:253-258, 1979. [PubMed: 547084]
    46,XX,t(11;22)(q25;q13).&"46,XX,t(11;22)(11pter -> 11q25::22q13 -> 22qter; 22pter -> 22q13::11q25 -> 11qter)."&"47,XX,+der(22),t(11;22)(q25;q13)mat."&Mentally retarded girl with microcephaly, bilateral blepharoptoses, short palpebral fissures, large and low set ears with a right preauricular skin tag and bilateral sinuses, long and prominent philtrum, micrognathia, cleft palate, heart murmur, limited abduction of hip joints and long slender fingers. Dermatoglyphic study showed finger patterns consisting of 6 ulnar loops, 3 arches and one radial loop on an unusual site, a low total finger ridge count, absence of digital triradius b on both sides and presence of an ulnar loop pattern on the right hypothenar area.
    Aberration: Reciprocal translocation
    Index Terms: Cleft lip/palate,Ears ... large,Ears ... low-set,Ears ... preauricular pits,Ears ... preauricular skin tags,Fingers ... long,Joints ... anomalies,Microcephaly,Micrognathia,Palpebral fissures ... short,Philtrum ... long,Skin ... tag and/or sinus
    Negative band

  • Nielsen K B, Dyggve H V, Knudsen H, Olsen J: A chromosomal survey of an institution for the mentally retarded. Danish Med. Bull. 30:5-13, 1983. [PubMed: 6831943]
    Case No. 717-75.
    46,XX,t(11;22)(q25;q13).
    Aberration: Simple translocation
    Negative band

  • Pai G S, Thomas G H, Leonard C O, Ward J C, Valle D L, Pyeritz R E: Syndromes due to chromosomal abnormalities: Partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8. Johns Hopk. Med. J. 145:162-169, 1979. [PubMed: 491337]
    46,XX,t(11;22)(q25;q11 or 12).&"46,XX,t(11;22)(11pter -> 11q25::22q11 or 12 -> 22qter; 22pter -> 22q11)."&A 2 1/2 year old patient, with congenital anomalies, was reported.&"47,XX,+der(22)t(11;22)(q25;q11 or 12)mat."
    Aberration: Simple translocation
    Negative band

  • Pauli R M, Meisner L F, Szmanda R J: ''Expanded'' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion. AJDC 137:1087-1089, 1983. [PubMed: 6637912]
    45,XY,-11,-15,+t(11;15)(11pter -> 11q25::15q15 -> 15qter).
    Mother had normal chromosomes.
    Aberration: Simple translocation
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Negative band

  • Richkind K E, 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. 1138.
    46,XX,t(11;22)(q25;q13)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Romain D R, Columbano-Green L M, Smythe R H, Parfitt R G, Gebbie O B, Chapman C J, Wall M: Partial trisomy 14q24 to qter. J. Med. Genet. 20:466-467, 1983. [PMC free article: PMC1049185] [PubMed: 6655674]
    46,XX,t(11;14)(q25;q24).&"46,XY,-11,+der(11)t(11;14)(11pter -> 11q25::14q24 -> 14qter)mat."
    Patient was one month old, and had multiple congenital anomalies.
    Aberration: Simple translocation
    Negative band

  • Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy R F.: Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin. Genet. 69: 58-64, 2006. [PubMed: 16451137]
    Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy R F.: Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. Clin. Genet. 69: 58-64, 2006. [PubMed: 16451137]
    Patient 1: 46,XX,der(11)t(11;20)(qter;qter)de novo
    The patient presented with psychomotor retardation, growth retardation, cardiopathy, left-sided hydronephrosis, and dysmorphism.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q-;20q+
    Index Terms: Multiplex ligation-dependent rpobe amplification (MLPA)

  • Shapiro L R, 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. 1137.
    46,XX,t(11;22)(q25;q12)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Stamberg J, Thomas G H: Unusual supernumerary chromosomes: types encountered in a refereed population, and high incidence of associated maternal chromosome abnormalities. Hum. Genet. 72:140-144, 1986. [PubMed: 3455921]
    Case 8.
    Mother: mos46,XX/46,XX,t(11;22)(q25;q12).&"Patient: 47,+der(22),t(11;22)(22pter -> 22q12::11q25 -> 11qter)mat."
    Aberration: Reciprocal translocation
    Negative band

  • Steensen P, Ford J H, Lillquist K, Friedrich U: Unusual segregation in a family with a 11/21 translocation. Clin. Genet. 33:449-453, 1988. [PubMed: 3168317]
    46,XX,-11,+der(11)t(11;21)(11pter -> 11q25::21q21 -> 21qter)mat.&"46,XX,t(11;21)(q25;q21)mat."
    Patient had signs of Down syndrome.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 11q-,21q+
    Negative band

  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    45,XX,-11,-14,+der(11),t(11;14)(q25;q11).
    Aberration: Simple translocation
    Negative band

  • Same entry as in 05q130,07p130,11q210 (Warburton D, 1991).

  • Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]
    46,XY,t(11;14)(q25;q22).
    Aberration: Reciprocal translocation
    Negative band