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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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11q130

11q13
  • Bale S J, Bale A E, Stewart K, Dachowski L, McBride O W, Glaser T, Green J E, Mulvihill J J, Brandi M L, Sakaguchi K, Aurbach G D, Marx S J: Linkage analysis of multiple endocrine neoplasia type I with INT2 and other markers on chromosome 11. Genomics 4:320-322, 1989. [PubMed: 2565877]
    The locus INT2 was found to be closely linked to the MEN1 gene.
    MIM#: 131100
    Negative band
  • Same entry as in 01p350,01q230,01q420,07q360,10q260,11p150 (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;12)(q13;q24); t(11;16)(q13;p11); t(11;16)(q13;p13).
    Aberration: Reciprocal translocation
    Negative band
  • Cheung P, Kao F T, Law M L, Jones C, Puck T T, Chan L: Localization of the structural gene for human apolipoprotein A-I on the long arm of human chromosome 11. PNAS 81:508-511, 1984. [PMC free article: PMC344707] [PubMed: 6420790]
    MIM#: 107680
    Negative band
  • Ferguson-Smith M A: Gene Mapping by exclusion. BD-OAS XI(No. 3):126-129, 1975. [PubMed: 1203470]
    t(11;15)(q13;q26).
    Aberration: Simple translocation
    Negative band
  • Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]
    Family No. 16.
    46,XY,inv(11)(q13q23)mat.
    Aberration: Inversion paracentric
    Negative band
  • Gerner-Smidt P, Friedrich U, Petersen G B, Tischfield J A: "A balanced translocation t(11;16)(q13;p11), a cytogenetic study and an attempt at gene localization." Hum. Genet. 42:61-66, 1978. [PubMed: 649170]
    46,XX and XY,der(11)der(16)t(11;16)(q13;p11)mat and pat.
    Aberration: Reciprocal translocation
    Negative band
  • Guc-Scekic M, Pilic-Radivojevic G, Mrdjenovic G, Djuric M: Interstitial deletion of 11q. J. Med. Genet. 26:205-206, 1989. [PMC free article: PMC1015587] [PubMed: 2468775]
    46,XY,del(11)(q13q21).
    The patient had retarded growth and mental development, quadricephaly, micrognathia, high arched palate, low-set abnormal ears, digital anomalies, and anomalies of the limbs.
    Parental karyotypes were normal.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11q-
    Index Terms: Quadricephaly
    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]
    Hamerton J L, Ray M, Douglas G R: Chromosome banding techniques in clinical cytogenetics. Nobel Symposium 12:209-213, 1973.
    46,XY,t(11;20)(q13;p13).,46,XY,t(11;20)(11pter->11q13::20p13->20pter;,20qter->20p13::11q13->11qter).
    Case 1170 (160570) in this report.
    46,XY,der(11)der(13)t(11;13)(q13;q32)pat.
    Case II (HO70672 NB-9351) in this report.
    46,XX,der(11)der(20)t(11;20)(q13;p13)pat.,46,XY,t(11;13)(q13;q32).
    Aberration: Reciprocal translocation
    Negative band
  • Jackson J F, 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. 949.
    46,XX,t(11;15)(q13;q26)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]
    Jacobs P A, Melville M, Ratcliffe S G, Keay A J, Syme J: A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37:359-376, 1974. [PubMed: 4277977]
    M. R. C. Registry Nos. K72-22-70 and K72-178-71 in this report.
    46,XX and XY,t(11;13)(q13;q21).&The two individuals are sibs.
    Aberration: Simple translocation
    Negative band
  • Koeffler H P, Sparkes R S, Stang H J, Mohandas T K: Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16. PNAS 78:7015-7018, 1981. [PMC free article: PMC349184] [PubMed: 6273902]
    46,XX,t(11;16)(q13;p11).
    Negative band
  • Koeffler H P, Sparkes R S, Stang H J, Mohandas T K: Regional assignment of genes for human alpha-globin and phosphoglycollate phosphatase to the short arm of chromosome 16. PNAS 78:7015-7018, 1981. [PMC free article: PMC349184] [PubMed: 6273902]
    46,XX,t(11;16)(q13;p11).
    Negative band
  • Kotzot D. Rothlisberger B, Riegel M, Schinzel A.: Maternal uniparental isodisomy 11q13->qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13->qter. J. Med. Genet. 38:876-881, 2001. [PMC free article: PMC1734778] [PubMed: 11768394]
    Blood (6 yrs)=46,XX,der(19)t(11;19)(q13;p13.3)[17]/46,XX[83].,Blood (26 yrs)=46,XX[40].,Fibroblasts=46,XX,der(19)t(11;19)(q13;p13.3)de novo[30]/46,XX[20].
    Aberration: ST,UPD
    Chromosomal Aneuploidy: 11q+
  • Orye E, Ven Bever H: Paracentric inversions: two new familial cases, inv(7)(q22q11) and inv(11)(q23q13). J. Med. Genet. 20:231, 1983. [PMC free article: PMC1049057] [PubMed: 6576176]
    46,XX and XY,inv(11)(pter -> q13::q23 -> q13::q23 -> qter).
    Aberration: Inversion paracentric
    Negative band
  • Same entry as in 09q340,10q260 (Sachs et al, 1988).
  • Smeets D F C M, Scheres J M J C, Hustinx T W J: Heritable fragility at 11q13 and 12q13. Clin. Genet. 28:145-150, 1985. [PubMed: 4042396]
    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
  • Thakker R V, Bouloux P, Wooding C, Chotai K, Broad P M, Spurr N K, Besser G M, O''Riordan J L H: Association of parathyroid tumors in multiple endocrine neoplasia type I with loss of alleles on chromosome 11. NEJM 321:218-224, 1989. [PubMed: 2568587]
    Data on three families G/87, P/87, and R/87 are presented.
    INT 2 locus and the disease locus are closely linked.
    Aberration: Interstitial deletion
    MIM#: 131100
    Negative band
  • Tharapel A T, Michaelis R C, Velagaleti G V N, Laundon C H, Martens P R, Buchanan P D, Teague K E, Tharapel S A, Wilroy R S, Jr.: Chromosome duplications and deletions and their mechanisms of origin. Cytogenet. Cell Genet. 85:285-290, 1999. [PubMed: 10449919]
    Patient AG, was referred at 29 months of age because of developmental delay.
    mos46,XX,inv dup(11)(q23q13)[26]/46,XX,del(11)(q13q23)[24]
    Aberration: ID,DU
    Chromosomal Aneuploidy: 11q-;11q+
  • Tsujimoto Y, Yunis J J, Onorato-Showe L, Erikson J, Nowell P C, Croce C M: "Molecular cloning of the chromosomal breakpoint of B-cell lymphomas and leukemias with the t(11;14) chromosome translocation." Science 224:1403-1406, 1984. [PubMed: 6610211]
    Index Terms: Leukemia
    Negative band
  • 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;12)(q13;p13).
    Aberration: Reciprocal translocation
    Negative band
  • Zhao H-q, Rope A F, Saal H M, Blough-Pfau R I, Hopkin R J.: Upper airway malformation associated with partial trisomy 11q. AJMG DOI=10.1002/ajmg.a.20134, 2003. [PubMed: 12838551]
    Patient 3:
    46,XX,add(11)(q25).ish dup(11)(q25q13)(wcp11+).
    The patient was 5 years old with MCA. Communication was limited to a social smile.
    Parental karyotypes were normal.
    Aberration: RT,DU
    Chromosomal Aneuploidy: 11q+
    Index Terms: Upper airway malformation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105708
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