11q230

11q23

Publication Details

  • Abeliovich D, Carmi R: "The translocation 11q;22q: a novel unbalanced karyotype." AJMG 37:288, 1990. [PubMed: 2248300]
    47,XY,t(11;22)(q23;q11),+der(22),t(11;22)(q23;q11)mat.
    The pregnancy was terminated.
    Aberration: Reciprocal translocation
    Negative band

  • Armstrong S J, Goldman A S H, Speed R M, Hult+¬n M A.: Meiotic studies of a human male carrier of the common translocation, t(11;22), suggests postzygotic selection rather than preferential 3:1 MI segregation as the cause of liveborn offspring with an unbalanced translocation. AJHG 67:601-609, 2000. [PMC free article: PMC1287520] [PubMed: 10936106]
    Subject JB was 29 years old.
    JB=46,XY,t(11;22)(q23;q11).,Brother:47,XY,+der(22)t(11;22)(q23;q11).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q+;22q+

  • Ashley T, Gaeth A P, Inagaki H, Seftel A, Cohen M M, Anderson L K, Kurahashi H, Emanuel B S.: Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22). AJHG 79:524-538, 2006. [PMC free article: PMC1559541] [PubMed: 16909390]
    Kurahashi H, Shaikh T, Hu P, Roe B A, Emanuel B S, Budarf M L.: Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum. Mol. Genet. 9:1665-1670, 2000. [PubMed: 10861293]
    Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel B S.: The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. AJHG 72:733-738, 2003. [PMC free article: PMC1180249] [PubMed: 12557125]
    Kurahashi H, Shaikh T H, Zackai E H, Celle L, Driscoll D A, Budarf M L, Emanuel B S.: Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent consititutional t(11;22). AJHG 67:763-768, 2000. [PMC free article: PMC1287537] [PubMed: 10903930]
    Shaikh T H, Budarf M L, Celle L, Zackai E H, Emanuel B S.: Clustered 11q23 and 22q11 breakpoints and meiotic malsegregation in multiple unrelated t(11;22) families. AJHG 65:1595-1607, 1999. [PMC free article: PMC1288370] [PubMed: 10577913]
    Data on 32 families were evaluated, phenotypic findings consistent with 47,XX (or XY),+der(22),t(11;22) include mental retardation, preauricular skin tag and/or sinus, ear anomaly, palate anomaly, micrognathia, congenital heart disease, and genital anomalies in males. Frequency of abortions among offspring is increased. Segregation analysis shows that the risk for unbalanced offspring to be born to female heterozygotes may be as high as 10%, and that there may be a significant risk to male heterozygotes as well. The overall carrier frequency among progeny is 70.6%.
    The hypothesis that physical proximity between 11q23 and 22q11-but not typical meiotic recombinational activity in meiotic prophase- plays an important role in the generation of the constitutional rearrangement is supported.
    For the 1999 study, 23 families were studied.
    The breakpoint was localized within a 400-kb interval between D22S788 (N41) and ZNF74, on 22q11; and between D11S1340 and APOA1 on 11q23 to a region of about 185kb. The data suggests that 3:1 MI malsegregation is the mechanism.
    Aberration: Reciprocal translocation
    MIM#: 133450
    Index Terms: Congenital heart defects (cardiovascular anomalies),Ears ... anomalies (dysmorphic),Ears ... preauricular skin tags,Genitalia ... anomalies,Micrognathia,Skin ... tag and/or sinus,Palate ... anomaly
    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]
    Family Nos. 33 and 34:
    t(11;22)(q23;q11)pat.,Fetal karyotypes - 46,XX & XY,t(11;22).
    Family No. 34 ascertained because of spontaneous abortion.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band

  • Batanian J, Brun B, Chandley A C, Croquette M F, Delafontaine D, Gabriel-Robez O, Guichaoua M R, Hargreave T B, Hulten M A, Jaafar H, Johannisson R, Lohrs U, Luciani J M, McBeath S, Noel B, Passarge E, Perdigo A de, Quack B, Rigot J M, Rumpler Y, Saadallah N, Schwinger E, vom Ende U, Wolff H.: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II. - Robertsonian and reciprocal translocations. A European collaborative study. Ann. Genet. 39:17-25, 1996.
    Case from Speed.
    46,XY,t(11;22)(q23;q11)
    28 years old with terminal asynapsis.
    Aberration: Reciprocal translocation
    Index Terms: Spermatocytes
    No band

  • Beedgen B, Nutzenadel W, Querfeld U, Weiss-Wichert P: """Partial trisomy 22 and 11"" due to a paternal 11;22 translocation associated with the Hirschsprung disease." Europ. J. Ped. 145:229-232, 1986. [PubMed: 3769983]
    47,XY,+der(22)t(11;22)(q23;q11)pat.
    Aberration: Reciprocal translocation
    MIM#: 142623
    Negative band

  • Same entry as in 02q330,05p120,05p130,05q150,10p150,10q220,10q240 (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]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    46,XX,t(11;22)(q23;q11).,See report by Giraud et al, 1975.
    t(11;18)(q23;p11); t(11;21)(q23;q22);, t(11;22)(q23;q12); t(11;22)(q23;q13).
    Aberration: Reciprocal translocation
    Negative band

  • Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    46,XX,t(11;22)(q23;q11).&See report by Giraud et al, 1975.
    Aberration: Reciprocal translocation
    Negative band

  • Cassidy S B, Heller R M, Kilroy A W, McKelvey W, Engel E: Trigonocephaly and the 11q- syndrome. Ann. Genet. 20:67-69, 1977. [PubMed: 302679]
    Case M.M. 100276 in this report. At 9 months the patient was in good health. Parents karyotypes were normal.
    46,XX,del(11)(q23).,46,XX,del(11)(pter->q23:).
    Aberration: Terminal deletion
    Index Terms: Trigonocephaly
    Negative band

  • Chen C-P, Chern S-R, Tzen C-Y, Lee M-S, Pan C-W, Chang T-Y, Wang W.: Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts. Prenat. Diag. 21:317-320, 2001. [PubMed: 11288126]
    46,XX,del(11)(q23)de novo
    The pregnancy was terminated. Fetal had MCA of 11q deletion syndrome.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 11q-
    Index Terms: Pyelectasis, unilateral duplex renal system

  • Chen C P, Liu F F, Jan S W, Yang Y C, Lan C C.: Prenatal diagnosis of supernumerary der(22)t(11;22) associated with the Dandy-Walker malformation in a fetus. Prenat. Diag. 16:1137-1140, 1996. [PubMed: 8994250]
    47,XY,+der(22)t(11;22)(q23;q11)mat.,Mother:46,XX,der t(11;22)(q23;q11)mat.
    At 24 weeks, a sonographic examination, revealed cerebellar hypoplasia, an enlarged cisterna magna, a cyst, absence of ventricular dilatation and at autopsy low-set malformed ears with preauricular tags, a high arched palate, micrognathia, and a long philtrum were noted.
    The pregnancy was terminated.
    Aberration: Reciprocal translocation
    MIM#: 220220
    Index Terms: Dandy-Walker ... malformation
    Negative band

  • Chudley A E, Pabello P D, Pinno E, Cardoso R: Partial deletion of the long arm of chromosome 11-prenatal diagnosis. AJMG 16:137-139, 1983. [PubMed: 6638064]
    46,XY,del(11)(pter -> q23:).
    Aberration: Terminal deletion
    Negative band

  • Cohen O, Mermet M A, Cans C, Gilardi J L, Simonet A, Jalbert P.: Familial autosomal reciprocal translocations. Ann. Genet. 38:177-186, 1995. [PubMed: 8629805]
    A computerised system, called Reci-Conseil has been developed, on the basis of about 2,000 families.

    Cohen O, Simonet M, Cans C, Mermet M A, Demongeot J, Amblard F, Jalbert P: Human reciprocal translocations: a new computer system for genetic counseling. Ann. Genet. 35:193-201, 1992. [PubMed: 1296514]
    Jalbert P, Sele B, Jalbert H: Reciprocal translocation: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing. A study of 151 human translocation. Hum. Genet. 55:209-222, 1980. [PubMed: 7450764]
    46,XX,t(11;22)(q23;q11).,47,+der(22)t(11;22)(q23;q11)(tertiary trisomy).
    Annex 1.
    t(11;22)(q23;q11.2).
    The RCPc (RCP counseling) is a knowledge base extracted from SCD (Structural chromosome data) containing information on 1376 families.
    Aberration: Reciprocal translocation
    Index Terms: Genetic counseling,Reciprocal translocations
    Negative band

  • Davis J R, Weinstein L, Veomett I C, Shenker L, Giles H R, Hauck L: Balanced translocation karyotypes in patients with repetitive abortion. Case study and literature review. Am. J. Obst. Gynecol. 144:229-233, 1982. [PubMed: 7051833]
    Case No. 59.
    46,XY,t(11;13)(q23;q22).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    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(11;22)(q23;q11).
    Aberration: Reciprocal translocation
    Negative band

  • de Lonlay-Debeney P, de Blois M-C, Bonnet D, Amiel J, Abadie V, Picq M, Lyonnet S, Sidi D, Munnich A, Vekemans M, Cormier-Daire V.: Ebstein anomaly associated with rearrangements of chromosomal region 11q. AJMG 80:157-159, 1988. [PubMed: 9805133]
    Case 1, C.B.:
    46,XY,del(11)(q21q23)de novo
    He underwent a modified Blalock-Taussig shunt at day 7, had the Pierre Robin sequence and at age 4 mild growth and psychomotor retardation was noted.
    Case 2, A.S.:
    47,XX,+der(22)t(11;22)(q23;q11)mat.
    Autopsy showed Ebstein anomaly with an hypoplastic right ventricle and pulmonary atresia. She also had Pierre Robin sequence, bilateral renal hypoplasia, and adducted thumbs.
    Aberration: ID,RT
    MIM#: 224700
    Chromosomal Aneuploidy: 11q-;11q+
    Index Terms: Ebstein anomaly

  • Diedrich U, Hansmann I, Janke D, Opitz O, Probeck H D: Chromosome anomalies in 136 couples with a history of recurrent abortions. Hum. Genet. 65:48-52, 1983. [PubMed: 6642507]
    46,XX,rcp(11;22)(q23;q11).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer M G, Shanske A, Goldberg R, Morrow B E.: AT-Rich palindromes mediate the constitutional t(11;22) translocation. AJHG 68:1-13, 2001. [PMC free article: PMC1234939] [PubMed: 11095996]
    Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita R K, Duong S, Fox J, Blumenthal D, Lalani S R, Shaffer L G, Morrow B E.: A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. AJHG 65:1608-1616, 1999. [PMC free article: PMC1288371] [PubMed: 10577914]
    The breakpoint on 11q23 occurred between two genetic markers, D11S1340 and APOC3-tetra, both being present within a single BAC clone.
    Aberration: Reciprocal translocation
    No band

  • Engel E, Hirshberg C S, Cassidy S B, McGee B J: Chromosome 11 long arm partial deletion: A new syndrome. Am. J. Ment. Defic. 80:473-475, 1976. [PubMed: 1247044]
    46,XX,del(11)(q23).,46,XX,del(11)(pter -> q23:).,Comparison of the present five-year-old case studied by Giemsa banding technique, with four previously reported cases suggests a clinical picture of variable mental retardation, marked speech defect, trigonocephaly and pronounced growth failure.
    Aberration: Terminal deletion
    Index Terms: Language deficit,Trigonocephaly
    Negative band

  • Estop A M, Cieply K, Munne S, Surti U, Wakim A, Feingold E.: Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum. Genet. 106:517-524;DOI 10.1007/s004390000275, April 18, 2000. [PubMed: 10914681]
    Estop A M, Cieply K M, Munne S, Feingold E.: Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Hum. Genet. 104:412-417, 1999. [PubMed: 10394934]
    Estop et al (2000) found an excess of chromosome 21 disomy in carriers than controls.
    24,+der(22)
    The subject was 44 years old, had a low sperm count, his two wives had two miscarriages each. The 24,+der(22) gamete was seen more frequently than all of the other chromosome 24 gametes combined.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q+;22q+

  • Foley P, McAuliffe F, Mullarkey M, Reardon W.: Antenatal diagnosis of deletion chromosome 11 (q23-qter)(Jacobsen syndrome). Clin. Dysmorphol. 16: 177-179, 2007. [PubMed: 17551332]
    46,XY,del(11)(q23-qter).,Mother:46,XX,t(11;15)(q24.2;q26.3).
    Trigonocephaly and hypoplastic left heart syndrome was suspected antenatally. The baby died 3 hours after delivery of cardiac failure.
    Aberration: TD,RT
    Chromosomal Aneuploidy: 11q-
    Index Terms: Jacobsen syndrome

  • Fraccaro M, Lindsten J, Ford C E, Iselius L: "The 11q;22q translocation: A European collaborative analysis of 43 cases." Hum. Genet. 56:21-51, 1980. [PubMed: 7203479]
    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.
    Iwarsson E, Malmgren H, Inzunza J, Ahrlund-Richter L, Sjoblom P, Rosenlund B, Fridstrom M, Hovatta O, Nordenskjold M, Blennow E.: Highly abnormal cleavage divisions in preimplantation embryos from translocation carriers. Prenat. Diag. 20:1038-1047, 2000. [PubMed: 11180227]
    Lindblom A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjold M, Larsson C: "Predisposition for breast cancer in carriers of constitutional translocation 11q;22q." AJHG 54:871-876, 1994. [PMC free article: PMC1918254] [PubMed: 8178827]
    Tapia-P+íez I, O''Brien K P, Kost-Alimova M, Sahl+¬n S, Kedra D, Bruder C E G, Andersson B, Roe B A, Hu P, Imreh S, Blennow E, Dumanski J P.: Fine mapping of the constitutional translocation t(11;22)(q23;q11). Hum. Genet. 106:506-516;DOI 10.1007/s004390000287, April 20, 2000. [PubMed: 10914680]
    Tapia-Paez I, Kost-Alimova M, Hu P, Roe B A, Blennow E, Fedorova L, Imreh S, Dumanski J P.: The position of t(11;22)(q23;q11) constitutional translocation breakpoint is conserved among its carriers. Hum. Genet. 109:167-177, 2001. [PubMed: 11511922]
    47,XX or XY,+der(22),t(11;22)(q23, 4, or 5;q11, 2 or 3)mat except case No. 17 which is pat.
    Cases 1 thru 31 ascertained as unbalanced carriers. Cases 32 to 43 ascertained as balanced carriers.
    Eight families from Sweden were studied for predisposition to breast cancer.
    46,XX and XY,t(11;22)(q23;q11).,46,XX or XY,t(11;22)(q23, 4, or 5;q11, 2 or 3).
    The number of cases of breast cancer was significantly higher in the translocation families.
    Tapia-P+íez et al studied 10 patients from nine families, all carriers of the constitutional translocation.
    46,XX and XY,t(11;22)(q23;q11).
    The breakpoints are between region D11S1340 and WI-8564 on chromosome 11 and between D22S134 and D22S264 on chromosome 22.
    Aberration: Reciprocal translocation
    Index Terms: Breast ... cancer
    Negative band

  • Francke U, Weber F M, Sparkes R S, Mattson P D, Mann J D: Duplication 11(q21 to q23 to qter) syndrome. BD-OAS XII(No. 3B):167-186, 1977. [PubMed: 890090]
    46,XX,t(6;11)(q27;q23).,46,XX and XY,der(6)der(11)t(6;11)(q27;q23)mat.
    Patient 1 in this report.
    46,XX,-6,+der(6)t(6;11)(q27;q23).
    Patient 2 in this report.
    46,XX,t(4;11)(q35;q231).,46,XX and XY,der(4)der(11)t(4;11)(q35;q231)mat.,46,XX and XY,-4,+der(4)t(4;11)(q35;q231)mat and pat.
    Patient 3 in this report.
    46,XX,t(5;11)(p15;q21).,46,XX,-5,+der(5)t(5;11)(p15;q21)mat.
    Aberration: Simple translocation
    Negative band

  • Frank J, Riccardi V M: The 11q- syndrome. Hum. Genet. 35:241-246, 1977. [PubMed: 844873]
    46,XX,del(11)(q23).,46,XX,del(11)(pter->q23:).,The parents had normal karyotypes. A review of eight other cases of 11q terminal deletion is given. Growth and mental retardation, congenital heart disease, telecanthus and distinctive facies are common features.
    Aberration: Interstitial deletion
    Index Terms: Congenital heart defects (cardiovascular anomalies),Facial dysmorphism,Telecanthus
    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(11;22)(q22;q13).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Ono J, Harada K, Hasegawa T, Sakurai K, Kodaka R, Tanabe Y, Tanaka J, Igarashi T, Nagai T, Okada S: Central nervous system abnormalities in chromosome deletion at 11q23. Clin. Genet. 45:325-329, 1994. [PubMed: 7523004]
    Patient 1: D.A.
    46,XX,del(11)(q23.3->qter)de novo.
    Patient 2: K.T.
    46,XY,del(11)(q23->qter).
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 11q-
    Index Terms: Central nervous system ... abnormalities
    Negative band

  • Giraud F, Mattei J F, Mattei M G, Bernard R: Partial trisomy 11q and familial translocation 11-22. Humangenetik 28:343-347, 1975. [PubMed: 1176125]
    46,XX,t(11;22)(q23;q11).,46,XX,t(11;22)(11pter->11q23::22q11->22qter;,22pter->22q11::11q23->11qter).
    Case Corinne G. in this report.
    46,XX,-22,+der(22)t(11;22)(q23;q11)mat.,This and another sib are trisomic for chromosome 11(q23->qter).
    Aberration: Reciprocal translocation
    Negative band

  • Hill A S, Foot N J, Chaplin T L, Young B D.: The most frequent constitutional translocation in humans, the t(11;22) is due to a highly specific Alu-mediated recombination. Hum. Mol. Genet. 9:1525-1532, 2000. [PubMed: 10888603]
    Aberration: Reciprocal translocation

  • Hustinx R, Verloes A, Grattagliano B, Herens C, Jamar M, Soyeur D, Schaaps J P, Koulischer L: Monosomy 11q: report of two familial cases and review of the literature. AJMG 47:312-317, 1993. [PubMed: 8135272]
    Family 2: Patient 2, 3 and 4.
    46,XY,rcp(11;17)(q23;p13)-father.,"46,XY,-11,+der(11)rcp(11;17)(q23;p13)pat."
    A QFQ banded analyses had overlooked this translocation in an amniotic cell culture preparation of patient 2; and the correct diagnosis was made a posteriori after the birth of patient 3.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q-
    Negative band

  • Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J: "An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study." Hum. Hered. 23:568-585, 1973. [PubMed: 4134631]
    Tumer Z, Henriksen A M, Bache I, Brixen K, Kalschauer V, Illum N, Rasmussen K, Larsen L A, Tommerup N.: Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. AJMG 135A:339-341, 2005. [PubMed: 15887263]
    46,XX and XY,t(11;21)(q23;q22).&"46,XX and XY,der(11)der(21)t(11;21)(q23;q22)mat and pat."
    Case No. 1 in this report.
    46,XX,-11,+der(11)t(11;21)(q23;q22)pat.
    Case No. 3 in this report.
    46,XY,-21,+der(21)t(11;21)(q23;q22)mat.
    Individuals monosomic for 11q23 to 11qter showed severe malformations and retardation and a patient trisomic for the same region was mentally retarded but less severely affected.
    Aberration: Simple translocation
    MIM#: 147791
    Chromosomal Aneuploidy: 11q-
    Negative band

  • Kaffe S, Hsu L Y F, Sachdev R K, Philips J, Hirschhorn K: Partial deletion of long arm of chromosome 11: del(11)(q23). Clin. Genet. 12:323-328, 1977. [PubMed: 412630]
    Case T.B., (270776) in this report.
    46,XX,del(11)(pter -> q23:).
    Parents karyotypes were normal.
    Aberration: Terminal deletion
    Negative band

  • Kessel E K, Pfeiffer R A: "47,XY,+der(11;22)(q23;q12) following balanced translocation t(11;22)(q23;q12)mat. Remarks on the problem of trisomy 22." Hum. Genet. 37:111-116, 1977. [PubMed: 881189]
    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]
    Case No. 33=47,XX,+der(22)t(11;22)(q23;q11.2).,enh(11q23->qter).
    Patient was dysmorphic with malformations.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q+

  • Klaassens M, Scott D A, van Dooren M, Hochstenbach R, Eussen H J, Cai W W, Galjaard R J, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A.: Congenital diaphragmatic hernia associated with duplication of 11q23-qter. AJMG Part A: 140A: 1580-1586, 2006. [PMC free article: PMC1550781] [PubMed: 16770801]
    Aberration: RT,DU
    MIM#: 142340
    Chromosomal Aneuploidy: 11q+
    Index Terms: Congenital diaphragmatic hernia (CDH)

  • Koduru P R K, Chaganti R S K: "Meiotic chromosome segregation in human t(11;22)(q23;q11) carriers: a theoretical consideration." Genome 32:24-29, 1989. [PubMed: 2721946]
    47,XX or XY,+der(22)t(11;22)(22pter -> 22q11::11q23 -> 11qter).
    The model predicts the formation of a chain trivalent with chromosome order 11-der(11)-22 during prophase I and its predominant alternate orientation at metaphase I.
    Aberration: Reciprocal translocation
    Negative band

  • Koiffmann C P, Gonzalez C H, Vianna-Morgante A M, Kim C A, Odone-Filho V, Wajntal A.: Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q. AJMG 58:46-49, 1995. [PubMed: 7573155]
    The infant had MCA, severe psychomotor delay and was very hypotonic.
    46,XY,-11,+der(11),t(11;12)(11pter->q23::12q23->12qter)mat.
    A sister of the proband was also a balanced carrier of the translocation.
    Aberration: Reciprocal translocation
    MIM#: 256700
    Chromosomal Aneuploidy: 11q-, 12q+
    Index Terms: Neuroblastoma
    Negative band

  • Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel B S.: The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin. Genet. 78: 299-309, 2010. [PMC free article: PMC3336963] [PubMed: 20507342]
    Ohye T, Inagaki H, kogo H, Tsutsumi M, Kato T, Tong M, Macville M V E, Medne L, Zackai E H, Emanuel B S, Kurahashi H.: Paternal origin of the de novo constitutional t(11;22)(q23;q11). Europ. J. Hum. Genet. 18: 783-787, 2010. [PMC free article: PMC2987363] [PubMed: 20179746]
    Eight cases were studied.
    t(11;22)(q23;q11)dn
    All were determined to be paternal in origin by using polymorphisms in palindromic AT-rich repeats (PATRRs).
    Aberration: Reciprocal translocation
    Index Terms: Paternal origin of de novo t(11,22)
    No band

  • Larson S A, Yeatman G W, Riccardi V M: Deletion of 11q: Report of two cases and a review. BD-OAS XII(No. 5):125-130, 1976. [PubMed: 953212]
    Two cases in this report.
    46,XX,del(11)(q23).
    Aberration: Terminal deletion
    Negative band

  • Lee M L, Sciorra L J: Partial monosomy of the long arm of chromosome 11 in a severely affected child. Ann. Genet. 24:51-53, 1981. [PubMed: 6971620]
    Patient, died after 23 days, and had features compatible with the 11q partial monosomy syndrome. Parents'' karyotypes were normal. Father was 27 years and mother was 24 years old.
    46,XX,del(11)(q23).
    Aberration: Terminal deletion
    Negative band

  • Leonard C, Courpotin C, Labrune B, Lepercq G, Kachaner J, Caut P: Partial monosomy due to long-arm deletion of chromosome 11:del(11)(q23). Ann. Genet. 22:115-120, 1979. [PubMed: 315201]
    Patient, 040479, with trigonocephaly, facial dysmorphia, and congenital heart disease, died after 25 days. Parents were not karyotyped.
    46,XX,del(11)(pter -> q23:).
    Aberration: Terminal deletion
    Index Terms: Congenital heart defects (cardiovascular anomalies),Facial dysmorphism,Trigonocephaly
    Negative band

  • Lippe B M, Sparkes R S, Fass B, Neidengard L: Craniosynostosis and syndactyly: expanding the 11q- chromosomal deletion phenotype. J. Med. Genet. 17:480-483, 1980. [PMC free article: PMC1885929] [PubMed: 7205433]
    Patient was 26 months of age.
    Karyotypes of both parents were normal.&46,XX,del(11)(q23).
    Aberration: Terminal deletion
    Index Terms: Craniosynostosis,Syndactyl(y)(ia)
    Negative band

  • Macville M V E, Loneus W H, Marcus-Soekarman D, Huys E H L P G, Schoenmakers E F P M, Schrank-Hacker A, Emanuel B S, Engelen J J M.: XX male with sex reversal and a de novo 11;22 translocation. AJMG Part A: 140A: 1973-1977, 2006. [PMC free article: PMC2818516] [PubMed: 16894539]
    Ohye T, Inagaki H, Kogo H. et al: Paternal origin of the de novo consitutional t(11;22)(q23;q11). Europ. J. Hum. Genet. 18: 783-787, 2010. [PMC free article: PMC2987363] [PubMed: 20179746]
    46,XX,t(11;22)(q23;q11.2)dn
    After karyotyping on amniotic fluid cells and ruling out other possible errors, a normal male baby was delivered.
    Aberration: Reciprocal translocation

  • Martin R H: "Analysis of human sperm chromosome complements from a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)." Clin. Genet. 25:357-361, 1984. [PubMed: 6713713]
    This study indicates that the 11;22 translocation does not specifically cause 3:1 disjunction of chromosomes but that this segregation of chromosomes is more likely to result in a viable pregnancy.
    Aberration: Simple translocation
    Negative band

  • McPherson E, Meisner L F: 11q- syndrome: review and report of two cases. BD-OAS XVIII(No. 3B):295-300, 1982. [PubMed: 7139112]
    Case 1.
    46,XX,del(11)(q23:).&Parental karyotypes were normal.
    Aberration: Terminal deletion
    Negative band

  • Monteleone P L, Chen S C, Nouri-Moghaddam S, Blair J D, Tietjens M: Deletion of the long arm of chromosome 11, \del(11)(q23)\. AJMG 13:299-304, 1982. [PubMed: 6891182]
    Patient died after 12 hours. Parental karyotypes were normal.
    46,XY,del(11)(q23).&Also see comment by Roy, I, M F Chen, and M Vekemans: Letter -> the Editor: Deletion of the long arm of chromosome 11 and sex chromosome constitution. AJMG 20:401-402, 1985.
    Aberration: Terminal deletion
    Negative band

  • Mulcahy M T, Jenkyn J: The 11q- syndrome: Another case report. Hum. Genet. 36:239-242, 1977. [PubMed: 870416]
    Case C1870 in this report.
    46,XX,del(11)(pter->q23:),Both parents had normal karyotypes. The authors suggest that the association of marked growth retardation, developmental delay with speech and hearing deficit, trigonocephaly and a pixie-like facies are characteristic of the 11q- syndrome.
    Aberration: Terminal deletion
    Index Terms: Developmental retardation,Face ... pixie-like,Language deficit,Trigonocephaly
    Negative band

  • Najafzadeh T M, Dumars K W: Duplication of distal 11q and 22p occurrence in two unrelated families. AJMG 8:341-347, 1981. [PubMed: 7234904]
    Family A. Patient J. P.
    46,XX,t(11;22)(q23;q112).&"47,XX,+der(22)t(11;22)(q23;q112)mat."
    Family B. Patient M. F.
    46,XX and XY,der(11)der(22)t(11;22)(q23;q112)mat and pat.&"47,XY,+der(22)t(11;22)(q23;q112)mat."
    Aberration: Simple translocation
    Negative band

  • Nakai H, Yamamoto Y, Kuroki Y: "Partial trisomy of 11 and 22 due to familial translocation t(11;22)(q23;q11), inherited in three generations." Hum. Genet. 51:349-355, 1979. [PubMed: 511169]
    Patient KCMC-39279, was 1 year old with severe mental and growth retardation and multiple malformations.
    46,XX and XY,rcp(11;22)(q23;q11).&"47,XX,+der(22)rcp(11;22)(q23;q11)mat."
    Aberration: Reciprocal translocation
    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. 629-77.
    46,XY,del(11)(q23).
    Aberration: Terminal deletion
    Negative band

  • Obregon M G, Mingarelli R, Digilio M C, Zelante L, Giannotti A, Sabatino G, Dallapiccola B: Deletion 11q23 to qter (Jacobsen syndrome). Report of three new patients. Ann. Genet. 35:208-212, 1992. [PubMed: 1296516]
    Penny L A, Dell''Aquila M, Jones M C, Bergoffen J A, Cunniff C, Fryns J P, Grace E, Graham J M, Jr, Kousseff B, Mattina T, Syme J, Voullaire L, Zelante L, Zenger-Hain J, Jones O W, Evans G A.: Clinical and molecular characterization of patients with distal 11q deletions. AJHG 56:676-683, 1995. [PMC free article: PMC1801184] [PubMed: 7887422]
    Patients 1, 2, and 3.
    46,XX or XY,del(11)(q23 -> qter)de novo.
    Features include growth and mental retardation, hypotonia, trigonocephaly, facial dysmorphism with hypertelorism, epicanthal folds, abnormally shaped palpebral fissures, eye globe malformations, depressed nasal bridge, "carp shaped" mouth, highly arched palate, low set and malformed ears.
    Aberration: Terminal deletion
    MIM#: 147791
    Chromosomal Aneuploidy: 11q-
    Index Terms: Jacobsen syndrome
    Negative band

  • Pangalos C, Couturier J, Bartsocas C S, Theodorou S: "Partial 11q trisomy due to missegregation of maternal t(11;22)(q23;q11.1) translocation." La Nouv. Presse Med. 9:3065-3067, 1980. [PubMed: 7443445]
    46,XX and XY, der(11)der(22)t(11;22)(q23;q11.1)pat.&"47,XX,+der(22)t(11;22)(q23;q11.1)mat."
    Patient, 281177, was four months old with features of 11q trisomy.
    Aberration: Simple translocation
    Negative band

  • Patil S R, Lubs H A, Brown J A, Cohen M M, Gerald P S, Hecht F, Kimberling W J, Myrianthopoulos N, Summitt R L: Incidence of major chromosome abnormalities in children. Cytogenetics 18:302-306, 1977. [PubMed: 880833]
    46,XY,t(11;12)(q23;p11).&"46,XY,t(11;12)(11pter -> 11q23::12p11 -> 12pter;12qter -> 12p11::11q23 -> 11qter)."
    Case 3 in this report.
    46,XX,der(11)der(12)t(11;12)(q23;p11)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Peakman D C, Robinson A: Indications for chromosome analysis: Effect of new banding techniques. J. Ped. 88:166-167, 1976. [PubMed: 54413]
    46,XX,del(11)(q23).
    Aberration: Terminal deletion
    Negative band

  • Petkovic I, de Capoa A, Giancotti P, Barisic I.: Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I. Clin. Genet. 50:515-519, 1996. [PubMed: 9147886]
    Father:46,XY,t(11;22)(q23;q11).,Proband:47,XX,t(11;22)(q23;q11),+der(22)t(11;22)pat.
    The 8 month old girl was evaluated for psychomotor and somatic development.
    Aberration: Reciprocal translocation
    No band

  • Phelan M C, Rogers R C, Flannery D B, Albiez K, Byrd J R: "An 11q;22q translocation in two families." Proc. Greenwood Genet. Ctr. 6:22-26, 1987.
    Case 1: J.S.
    47,XY,+der(22),t(11;22)(q23;q11)mat.&"46,XX and XY,t(11;22)(q23;q11)."
    Dr. Fried, from Israel, suggested to me during the VIIth International Congress of Human Genetics that this translocation may indeed be the most commonest form of non-Robertsonian translocation in humans.
    Case 2, G.F. and mother.
    46,XX,t(11;22)(q23;q11).&"47,XX,+der(22)t(11;22)(q23;q11)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q+
    Negative band

  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XX,t(11;22)(q23;q12).&"46,XY,t(11;18)(q23;q21)."
    Aberration: Reciprocal translocation
    Negative band

  • Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]
    46,XY,t(11;22)(q23;q11).
    Aberration: Reciprocal translocation
    Index Terms: Ears ... accessory,Ears ... mishappen,Eye ... non-horizontal position,Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Sanal O, Wei S, Foroud T, Malhotra U, Concannon P, Charmley P, Salser W, Lange K, Gatti R A: Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region. AJHG 47:860-866, 1990. [PMC free article: PMC1683694] [PubMed: 2220826]
    t(X;11) and t(4;11) were studied.
    The AT locus appears to be within the segment STMY-S144.
    MIM#: 208900
    Negative band

  • Schinzel A A, Auf der Maur P, Moser H: Partial deletion of long arm of chromosome 11 del(11)(q23): Jacobsen syndrome. J. Med. Genet. 14:438-444, 1977. [PMC free article: PMC1013641] [PubMed: 604495]
    2 cases are reported with the findings of narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus, broad root, and short upturned tip of the nose, carp mouth, receding chin, misshapen ears, simian creases, and severe mental retardation. All parents had normal chromosomes.
    Case 1 in this report.
    46,XY del(11)(q23).
    Case 2 in this report.
    46,XX del(11)(pter -> q23).
    Aberration: Terminal deletion
    Index Terms: Chin ... receded,Ears ... mishappen,Eye ... non-horizontal position,Forehead ... narrow protruding,Hypertelorism,Jacobsen syndrome,Mouth ... carp-fish-shaped,Ptosis,Strabismus
    Negative band

  • Schinzel A A, Schmid W, Auf der Maur P, Moser H, Degenhart K H, Geisler M, Grubisic A: Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic nondisjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum. Genet. 56:249-262, 1981. [PubMed: 7239508]
    Aberration: Simple translocation
    Negative band

  • Schmidt 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. 1104.
    46,XX,t(11;22)(q23;q11)mat.
    Aberration: Reciprocal translocation
    Negative band

  • Sirota L, Shabtai F, Landman I, Halbrecht I, Dulitzky F: New anomalies found in the 11q- syndrome. Clin. Genet. 26:569-573, 1984. [PubMed: 6499268]
    Patient died after 23 days; parental karyotypes were normal.
    46,XX,del(11)(q23 -> q25 or ter).
    Aberration: Terminal deletion
    Negative band

  • Slater H R, Voullaire L E, Vaux C E, Bankier A, Pertile M, Choo K H A: "Confirmation of trisomy 22 in two cases using chromosome painting: comparison with t(11;22)." AJMG 46:434-437, 1993. [PubMed: 8357017]
    Patient 3.
    46,XX,t(11;22)(q23;q11).
    The 30-year old phenotypically normal woman was referred f or chromosome analysis because of three first trimester miscarriages.
    Aberration: Reciprocal translocation
    Negative band

  • Smeets D, van Ravenswaaij C, de Pater J, Gerssen-Schoorl K, Van Hemel J, Janssen G, Smits A.: At least nine cases of trisomy 11q23->qter in one generation as a result of familial t(11;13) translocation. J. Med. Genet. 34:18-23, 1997. [PMC free article: PMC1050841] [PubMed: 9032644]
    A five generation family is reported. 15 carriers of the translocation in the family have been identified.
    46,XX and XY,der t(11;13)(q23;p13)mat and pat.,46,XY,der(13)t(11;13)mat and pat.
    13p+ was identified in two probands at birth with MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q+
    No band

  • Soler A, Carrio A, Perez-Vidal M T, Borrell A, Fortuny A: "Unusual segregation for 11q;22q parental translocation in a triplet pregnancy: prenatal diagnosis in chorionic villi and amniotic fluid." Prenat. Diag. 13:137-141, 1993. [PubMed: 8464833]
    46,XY,t(11;22)(q23;q11).&"46,XX,-22,+der(22)t(11;22)(q23;q11)pat."&"46,XX,der(11)der(22)t(11;22)(q23;q11)pat."
    Ultrasound examination, at 10 weeks of gestation, showed 3 sacs including an empty one.
    The empty sac showed the abnormal karyotype; and two normal females were delivered including the balanced carrier.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 11q-
    Negative band

  • Sullivan B A, Leana-Cox J, Schwartz S: Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization. AJMG 47:223-230, 1993. [PubMed: 8213910]
    Patient 1:
    46,XY,t(11;22)(q23;q11).
    Patient was ascertained during prenatal diagnosis and peripheral blood was used.
    Aberration: Reciprocal translocation
    Index Terms: FISH
    Negative band

  • Sutherland G R, Jacky P B, Baker E G, Manuel A: Heritable fragile sites on human chromosomes. X. New folate-sensitive fragile sites: 6p23, 9p21, 9q32, and 11q23. AJHG 35:432-4437, 1983. [PMC free article: PMC1685660] [PubMed: 6859039]
    Aberration: Fragile sites
    Negative band

  • Takahashi E I, Hori T A, Murata M: Population cytogenetics of rare fragile sites in Japan. Hum. Genet. 78:121-126, 1988. [PubMed: 3338799]
    Aberration: Fragile sites
    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(11;22)(q23;q11).&46,XY,+22q.
    Aberration: Reciprocal translocation
    Negative band

  • Same entry as in 07q220,11q210 (Warburton, 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;22)(q23;q11).
    Aberration: Reciprocal translocation
    Negative band

  • Wiley J 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. 1105.
    46,XX,t(11;22)(q23;q11)mat.
    Aberration: Reciprocal translocation
    Negative band