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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-.

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

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  • Breg W R, Miller D A, Allderdice P W, Miller O J: Identification of translocation chromosomes by quinacrine fluorescence. AJDC 123:561-564, 1972. [PubMed: 4113489]
    Patient No. 5 in this report.
    46,XY,der(11)der(17)t(11p17q)t(11q17p)mat.&46,XX,der(11)der(17)t(11p17q)t(11q17p)mat, del(18)(q1).
    Aberration: Whole-arm translocations
    No band
  • Bullman H, Lever M, Robinson D O, Mackay D J G, Holder S E, Wakeling E L.: Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. J. Med. Genet. 45: 396-399, 2008. [PubMed: 18474587]
    Wakeling E L, Abu Amero S, Alders M, Bilek J, Forsythe E, Kumar S, Lim D H, Macdonald F, Mackay D J, Maher E R, Moore G E, Poole R L, Price S M, Tangeraas T, Turner C L S, Van Haelst M M, Willoughby C, Temple I K, Cobben J M.: Epigenotype-phenotype correlations in Silver-Russell syndrome. J. Med. Genet. 47: 760-768, 2010. [PMC free article: PMC2976034] [PubMed: 20685669]
    Aberration: Uniparental disomy
    MIM#: 180860
    Index Terms: SRS
  • Daniel A, Malafiej P.: A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. AJMG 117A:212-222, 2003. [PubMed: 12599184]
    Case 7=47,XY,+r(11)[36%]/46,XY.
    Developmental delay.
    Aberration: Ring chromosome
  • Grati F R, Turolla L, D''Ajello P, Ruggeri A, Miozzo M, Bracalente G, Baldo D, Laurino L, Boldorini R, Frate E, Surico N, Larizza L, Maggi F, Simoni G.: Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. J. Med. Genet. 44: 257-263, 2007. [PMC free article: PMC2598040] [PubMed: 17259293]
    Aberration: Uniparental disomy
    MIM#: 130650
    Index Terms: BWS,Omphalocele
  • Grundy P, Telzerow P, Paterson M C, Haber D, Berman B, Li F, Garber J: Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms. Lancet 338:1079-1080, 1991. [PubMed: 1681381]
    Patient reported earlier by Saracco et al., 1988, Cancer 62:507-511. In this patient Wilms'' tumor subsequently developed.
    The child inherited two identical copies of one paternal chromosome 11- a condition known as uniparental paternal isodisomy.
    Aberration: Isodisomy
    Index Terms: Isodisomy,Uniparental
  • Gusella J F, Jones C, Kao F T, Housman D, Puck T T: Genetic fine structure mapping in human chromosome 11 by use of repetitive DNA sequences. PNAS 79:7804-7808, 1982. [PMC free article: PMC347437] [PubMed: 6961451]
    No band
  • Haaf T, Summer A T, Kohler J, Willard H F, Schmid M: A microchromosome derived from chromosome 11 in a patient with the CREST syndrome of scleroderma. Cytogenet. Cell Genet. 60:12-17, 1992. [PubMed: 1582251]
    mos46,XY(41%)/47,6c,+microchromosome 11 (59%)-blood.
    MIM#: 181750
    Index Terms: CREST syndrome of scleroderma
    No band
  • Hecht F, Hecht B K, Berger C S: Aneuploidy in recurrent spontaneous aborters: the tendency to parental nondisjunction. Clin. Genet. 26:43-45, 1984. [PubMed: 6467654]
    Aberration: Simple translocation
    No band
  • Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade M F, Landrieu P, Junien C: Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur. J. Hum. Genet. 1:19-29, 1993. [PubMed: 8069648]
    25 sporadic cases were studied.
    Aberration: Isodisomy
    MIM#: 130650
    Index Terms: Isodisomy,Somatic mosaicism
  • Joseph A M, Thomas I M: Cytogenetic investigations in 150 cases with complaints of sterility or primary amenorrhea. Hum. Genet. 61:105-109, 1982. [PubMed: 7129439]
    Aberration: Complex translocation
    Index Terms: Sterility
    No band
  • Kosztolanyi G, Bajnoczky K, Mehes K: Balanced chromosome rearrangements and abnormal phenotype. Acta Paediat. Hung. 31:397-402, 1991. [PubMed: 1790022]
    Case No. 4.
    Esophageal atresia was present.
    "The most plausible explanation seems to be a by chance coincidence........".
    Aberration: Simple translocation
    No band
  • Lebo R V, Gorin F, Fletterick R J, Kao F T, Cheung M C, Bruce B D, Kan Y W: High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle''s syndrome to chromosome 11. Science 225:57-59, 1984. [PubMed: 6587566]
    MIM#: 232600
    Index Terms: McArdle syndrome
    No band
  • Lichter P, Tang C C, Call K, Hermanson G, Evans G A, Housman D, Ward D C: High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science 247:64-69, 1990. [PubMed: 2294592]
    The authors demonstrate the feasibility of rapidly producing high-resolution maps of human chromosomes by in situ hybridization.
    Index Terms: In situ hybridization
    No band
  • Mayer H, Breyel E, Bostock C, Schidtke J: Assignment of the human parathyroid hormone gene to chromosome 11. Hum. Genet. 64:283-285, 1983. [PubMed: 6885073]
    MIM#: 168450
    No band
  • Rauch A, Pfeiffer R A, Trautmann U, Liehr T, Rott H D, Ulmer R: A study of ten small supernumerary (marker) chromosomes identified by flourescence in situ hybridization (FISH). Clin. Genet. 42:84-90, 1992. [PubMed: 1424236]
    Case 7, CE 861106.
    The patient had MCA/MR and age 4 3/4 years.
    No band
  • Ryan J, Barker P E, Shimizu K, Wigler M, Ruddle F H: Chromosomal assignment of a family of human oncogenes. PNAS 80:4460-4463, 1983. [PMC free article: PMC384058] [PubMed: 6576347]
    Index Terms: Oncogene
    No band
  • Till M, Rafat A, Charrin C, Plauchu H, Germain D: Duplication of chromosome 11 centromere in fetal and maternal karyotypes: a new variant. Prenat. Diag. 11:481-482, 1991. [PubMed: 1754567]
    Aberration: Marker chromosome
    No band
  • Wilson M, Peters G, Bennetts B, McGillivray G, Wu Z H, Poon C, Algar E. : The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports. AJMG Part A: 146A: 1370148, 2008. [PubMed: 18033734]
    Two patients, ages 11 and 6 were reported.
    Aberration: Uniparental disomy
    MIM#: 130650
    Chromosomal Aneuploidy: BWS; UPD(pat)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105803


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