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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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  • 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]
    Aberration: Reciprocal translocation
    No band
  • Byrd J R, Askew D E, McDonough P G: Cytogenetic findings in fifty-five couples with recurrent fetal wastage. Fert. Ster. 28:246-250, 1977. [PubMed: 557002]
    Case 1 M.P. (29 years old) in this report.
    46,XX,der(2)der(6)t(2;6)(q3;q2)pat.&"An abortus had the karyotype: 46,XY,der del(6)t(2;6)(q3;q2)mat."
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Cotlier E, Reinglass H, Rosenthal I M: The eye in the partial trisomy 2q syndrome. Am. J. Opthal. 84:251-258, 1977. [PubMed: 888894]
    A familial t(2q-;9p+) translocation in three generations is described. Three females were carriers and 5 members were partially trisomic for 2q. Ocular signs in the males, trisomic for 2q, included uveal coloboma, anterior chamber angle anomalies, congenital glaucoma with dislocated lens, exotropia, and blepharo-conjunctivitis.
    Aberration: Simple translocation
    Index Terms: Coloboma,Glaucoma,Lenses ... abnormalities,Ocular (optic) anomalies
    No band
  • Falk R E, Carrel R E, Valente M, Crandall B F, Sparkes R S: Partial trisomy of chromosome 11: A case report. Am. J. Ment. Defic. 77:383-388, 1973. [PubMed: 4706396]
    Case RQ (052561) in this report.
    46,XY,-2,+der(2)t(2;11)(q3;p1)pat.&"46,XY,-2,+der(2)t(2;11)(2pter -> 2q3::11p1 -> 11pter)pat."&See Francke (1972) in entry 02q300. See comments on 11p trisomy in entry of Palmer et al (1976) under 03p130.
    Aberration: Simple translocation
    No band
  • Francke U: Quinacrine mustard fluorescence of human chromosomes: Characterization of unusual translocations. AJHG 24:189-213, 1972. [PMC free article: PMC1762196] [PubMed: 5016511]
    Case No. 7 (RQ 052561) in this report.
    46,XY,-2,+der(2)t(2;11)(q3;p1)pat.&"46,XY,-2,+der(2)t(2;11)(2pter -> 2q3::11p1 -> 11pter)pat."&This is another patient with partial trisomy of 11p. Details on this patient reported in Falk et al (1973) cited under 02q300. Patient died at 5 weeks of age. Abnormalities included micrognathia, microglossia, cleft palate, dislocated hips, atrial septal defect, agenesis of the corpus callosum, right kidney and Fallopian tube.
    Aberration: Simple translocation
    Index Terms: Cleft lip/palate,Corpus callosum,Dislocation ... hip,Hip(s) ... dislocation (coxa vara),Kidney ... malformations,Micrognathia,Microglossia
    No band
  • Shapiro L R, Warburton D: Interstitial translocations in man. Lancet 2:712-713, 1972. [PubMed: 4115847]
    46,XX,ins(12;2)(q3;q3).&"46,XX,ins(12;2)(12pter -> 12q1::2q3 -> 2qter?::12q1 -> 12qter; 2pter -> 2q3?)."&"46,XX and XY,-12,+der(12)ins(12;2)(q1;q3)mat."
    Aberration: Direct insertion between two chromosomes
    No band
  • Wahrman J, Goitein R, Richler C, Goldman B, Akstein E, Chaki R: The mongoloid phenotype in man is due to trisomy of the distal pale G-band of chromosome 21. Chromosomes Today 5:241-248, 1976.
    Individual II-1 in the pedigree.
    Individual III-1 in the pedigree.
    45,XY,-2,-21,+der(2)t(2q+;21q-)mat.&Partial monosomy 21.
    Individuals III-2 and III-3 in the pedigree.
    46,XX,-2,+der(2)t(2q+;21q-)mat.&Partial trisomy 21.&As mentioned in the title of this report it is suggested that triplication of the pale band, or part of it, produces Down syndrome.
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Weise A, Starke H, Heller A, Tonnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T.: Chromosome 2 aberrations in clinical cases characterised by high resolution multicolor banding and region specific probes. J. Med. Genet. 39:434-439, 2002. [PMC free article: PMC1735147] [PubMed: 12070255]
    Case 5=
    GTG=46,XY,del(2)(q32-33).,MCB=46,XY,del(2)(q31-32.1)de novo.
    The patient had craniofacial dysmorphism, Sandal gap, primary MR and delayed speech development.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Index Terms: Multicolor banding (MCB)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106071


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