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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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11q210

11q21
  • Same entry as in 0Xq21.1 (Waters et al, 2001).
  • 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;14)(q21;q32); t(11;16)(q21;q13).
    Aberration: Reciprocal translocation
    Negative band
  • Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]
    Case No. 18:
    46,XY,del(11)(q21q23.1),dim(11)(q22),wcp11+
    The patient was studied because of developmental delay and dysmorphic features.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11q-
  • Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Lundsteen C, Philip J.: Comparative genomic hybridization in clinical cytogenetics. AJHG 57:1211-1220, 1995. [PMC free article: PMC1801381] [PubMed: 7485173]
    Sample III:
    46,XY,-18,+der(18)t(11;18)(q21;p11.3)de novo.
    Pregnancy terminated in 12th week.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 11q+
    Index Terms: CGH
    Negative band
  • Burgdorf W H C: Letter to the Editor and reply by Gardner et al 116:621-622, 1980. [PubMed: 7377798]
    Gardner E W, Miller H M, Lowney E D: Folded skin associated with underlying nevus lipomatosus. Arch. Dermat. 115:978-979, 1979. [PubMed: 464627]
    46,XX,del(11)(q21q23).
    Parents were not available for studies.
    Aberration: Interstitial deletion
    Index Terms: Skin ... folded
    Negative band
  • Carnevale A, Blanco B, Grether P, Castibejos A R: Interstitial deletion of the long arm of chromosome 11. Ann. Genet. 30:56-58, 1987. [PubMed: 3498432]
    Parental karyotypes were normal.
    46,XX,del(11)(q13q21 or q21q23).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11q-
    Negative band
  • Chodirker B N, Greenberg C R, Pabello P D, Chudley A E: Paracentric inversion 11q in Canadian Hutterites. Hum. Genet. 89:450-452, 1992. [PubMed: 1618494]
    Four Hutterite families were studied.
    46,XX and XY,inv(11)(q21q23)mat and pat.
    No phenotypic effect on the carriers was found.
    Aberration: Inversion paracentric
    Index Terms: Hutterites
    Negative band
  • 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. 1650/77 in this report.
    46,XY,der(18),t(11;18)(q21;p1102)pat.
    Aberration: Reciprocal translocation
    Index Terms: Metabolic disorders
    Negative band
  • 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,inv(11)(q21q23).
    Aberration: Inversion paracentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Faust J, Vogel W, Loning B: A case with 46,XX,del(11)(q21). Clin. Genet. 6:90-97, 1974. [PubMed: 4279151]
    Patient H.S. (C 3061) in this report.
    46,XX,del(11)(q21).&46,XX,del(11)(pter -> q21:).
    Aberration: Terminal deletion
    Negative band
  • Fiegler H, Gribble S M, Burford D C, Carr P, Prigmore E, Porter K M, Clegg S, Crolla J A, Dennis N R, Jacobs P, Carter N P.: Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays. J. Med. Genet. 40:664-670, 2003. [PMC free article: PMC1735585] [PubMed: 12960211]
    Gribble S M, Prigmore E, Burford D C, Porter K M, Ng B L, Douglas E J, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple I K, Youings S A, Thomas N S, Dennis N R, Jacobs P A, Crolla J A, Carter N P.: The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet. 42:8-16, 2005. [PMC free article: PMC1735914] [PubMed: 15635069]
    Case 2=46,XX,inv(11)t(11;12)(q21;p13.33)de novo.,Case A3 (in 2005 paper)=46,XX,t(11;12)(q21;p13.33)de novo.ish del(11)(90K17st,320L11mv,137O10mv,156E23mv,325I16-,99C10-,49M9st),t(11;12)(876F8sp;359B12sp).
    First referred at age 7 because of short stature and triangular facies. At age 20 she was described as having borderline intelligence and temporal lobe epilepsy.
    Aberration: ID,IP,RT
    Index Terms: DNA Microarray painting
  • Fineman R, Morgan M, 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. 946.
    46,XY,t(11;14)(q21;q13)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Grass F S, Parke J C, Jr, Hisley J C: Antenatal diagnosis of a de novo paracentric inversion of chromosome 11. Prenat. Diag. 7:1-5, 1987. [PubMed: 3823002]
    A normally developing child was born (one year old).
    46,XX,inv(11)(q21q23).
    Aberration: Inversion paracentric
    Negative band
  • Helmuth R A, Weaver D D, Wills E R: Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism. AJMG 32:178-181, 1989. [PubMed: 2494886]
    mos46,XY/46,XY,del(11)(q21).
    Some unusual characteristics were cyclopia, arhinencephaly, and holoprosencephaly.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 11q-
    Index Terms: Holoprosencephaly,Cyclop(ia)(s),Arhinencephaly
    Negative band
  • Hertz J M, Tommerup N, Sorensen F B, Henriques U V, Nielsen A, Therkelsen A J.: Partial deletion 11q: report of a case with a large terminal deletion 11q21-qter without loss of telomeric sequences, and a review of the literature. Clin. Genet. 47:231-235, 1995. [PubMed: 7554347]
    46,XX,del(11)(q21->q24)de novo.
    PRINS technique was used to detect the presence of telomeres at both ends of the deleted chromosome.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11q-
    Negative band
  • Horelli-Kuitunen N, Gahmberg N, Eeva M, Palotie A, Jarvela I.: Interstitial deletion of bands 11q21->22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes. AJMG 86:416-419, 1999. [PubMed: 10508981]
    46,XX,del(11)(q21q22.3)de novo
    The patient was studied because of minor anomalies, disproportionate short stature, and developmental delay. Trigonocephaly, hypertelorism, apparently low-set ears, mild renal abnormality, and delay in speech development found in this patient are also present in other 11q- patients.
    Three YAC clones, 11H7, 4A5, and IH4 were lacking on the deleted 11.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 11q-
  • 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;14)(q21;q13).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Ikegawa S, Ohashi H, Hosoda F, Fukushima Y, Ohki M, Nakamura Y.: Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]. AJMG 77:356-359, 1998. [PubMed: 9632164]
    46,XY,del(11)(q21q22.2 )de novo.
    The 15 yo was referred because of short stature and deformities of both knees.
    Aberration: Interstitial deletion
    MIM#: 177170
    Chromosomal Aneuploidy: 11q-
    Index Terms: Pseudoachondroplasia
  • Klep-de-Pater J M, de France H F, Bijlsma J B: Interstitial deletion of the long arm of chromosome 11. J. Med. Genet. 22:224-226, 1985. [PMC free article: PMC1049429] [PubMed: 4009645]
    Patient was 7.9 years of age with mild mental retardation.
    46,XX,del(11)(q13q21)or(q21q23).
    Aberration: Interstitial deletion
    Negative band
  • Macgregor D J, Imrie S, Tolmie J L: Outcome of de novo balanced translocations ascertained prenatally. J. Med. Genet. 26:590-591, 1989. [PMC free article: PMC1015701] [PubMed: 2810345]
    Proband 6.
    t(11;15)(q21;q24).
    Clinically normal at age 6.8 years.
    Aberration: Reciprocal translocation
    Negative band
  • Madan K, Pieters M H E C, Kuyt L P, van Asperen C J, de Pater J M, Hamers A J H, Gerssen-Schoorl K B J, Hustinx T W J, Breed A S P M, Van Hemel J O, Smeets D F C M: Paracentric inversion inv(11)(q21q23) in the Netherlands. Hum. Genet. 85:15-20, 1990. [PubMed: 2358301]
    Madan K, Seabright M, Lindenbaum R H, Bobrow M: Paracentric inversions in man. J. Med. Genet. 21:407-412, 1984. [PMC free article: PMC1049338] [PubMed: 6392555]
    Case 10.
    47,XXY,inv(11)(q21q23).
    There is no increase in the rate of spontaneous abortions among carriers or their partners; also no recombinants.
    The authors wonder whether prenatal diagnosis would be useful in these families.
    Case 11.
    46,XX,inv(11)(q21q23).
    Case 12.
    46,XY,inv(11)(q21q23)mat.
    Aberration: Inversion paracentric
    Negative band
  • Miller K, Raabe G, Schlesinger C: Paracentric inversion 11. Ann. Genet. 32:233-234, 1989. [PubMed: 2692512]
    46,XX,inv(11)(q21q23.3).
    Aberration: Inversion paracentric
    Negative band
  • Munn+¬ S, Bahce M, Schimmel T, Sadowy S, Cohen J. : Case report: Chromatid exchange and predivision of chromatids as other sources of abnormal oocytes detected by preimplantation genetic diagnosis of translocations. Prenat. Diag. 18:1459-1458, 1998. [PubMed: 9949445]
    Munne S.: Letter to the Editor - Preimplantation genetic diagnosis for translocations. Hum. Reprod. 21: 839-840, 2006. [PubMed: 16489212]
    46,XX,t(11;16)(q21;q22)
    She was 32 years old and had 5 consecutive spontaneous abortions.
    Aberration: Reciprocal translocation
    Index Terms: PGD in translocation carriers
  • Neu R L, Miller 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. 961.
    46,XX,t(11;20)(q21;p13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Pai G S, Thomas G H, Benke P J: Absence of constitutive heterochromatin in a partially identified supernumerary marker chromosome. J. Med. Genet. 18:392-394, 1981. [PMC free article: PMC1048765] [PubMed: 6948963]
    47,XY,del(11)(11pter -> 11q21:),+mar(11qter -> 11q21:?).&Karyotypes of both parents were normal. Patient was 18 months old and was karyotyped because of retardation and multiple malformations.
    Negative band
  • Park J P, McDermet M K, Doody A M, Marin-Padilla J M, Moeschler J B, Wurster-Hill D H: "Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype." AJMG 45:46-48, 1993. [PubMed: 8418658]
    Mother:46,XX,t(11;13)(q21;q14).,Fetus:47,XY,+der(13)t(11;13)(13pter->13q14::11q21->11qter)mat.
    The mother was refered for elevated MSAFP. The fetus had several external and internal anomalies.
    A causal association is hypothesized between 11q duplication and neural tube defects.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 11q+,13q+
    Index Terms: Neural tube defects
    Negative band
  • Raimondi S C, Luthardt F W, Summitt R L, Martens P R: High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements. Hum. Genet. 63:310-314, 1983. [PubMed: 6862433]
    46,XY,inv(11)(q21q23.3).
    Aberration: Inversion paracentric
    Negative band
  • Vejerslev L O, Fisher R A, Surti U, Wake N: Hydatidiform mole: parental chromosome aberrations in partial and complete moles. J. Med. Genet. 24:613-615, 1987. [PMC free article: PMC1050289] [PubMed: 3681907]
    46,XX,t(11;18)(q21;p11).
    Aberration: Simple translocation
    Negative band
  • Vekemans M J J, Cartier L, 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. 960.
    46,XY,t(11;18)(q21;q21)mat.
    Aberration: Reciprocal translocation
    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,XX,inv(11)(q21q23).&46,XY,inv(11)(q21q25).
    Aberration: Inversion paracentric
    Negative band
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    Parent and offspring, respectively:
    46,XY,t(11;16)(q21;q22) and /47,XX,+21,der t(11;16)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Woods C G, Bankier A, Curry J, Sheffield LJ, Slaney S F, Smith K, Voullaire L, Wellesley D.: Asymmetry and skin pigmentary anomalies in chromosome mosaicism. J. Med. Genet. 31:694-701, 1994. [PMC free article: PMC1050079] [PubMed: 7815438]
    Case 3:
    46,XX/46,XX,t(11;19)(q21;p13.1)/46,XX,inv(7)(p14q36),t(4;5)(q31;q35).
    Aberration: ID,PI,ST
    Index Terms: Asymmetry
    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;120A:331-337, 2003. [PubMed: 12838551]
    Patient 2, had MCA and died on the 23rd day of life.
    46,XX,der(9)t(9;11)(p23;q21)mat.
    Patient 4:
    46,XX,der(5)t(5;11)(p14;q21)de novo
    The 6 year old had severe MR, and MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5p-;9p-;11q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106060
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