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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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01p000

1p00
  • Bhasin M K, Foerster W, Fuhrmann W: A cytogenetic study of recurrent abortion. Humangenetik 18:139-148, 1973. [PubMed: 4578384]
    Case 2 (J. No. 531-72) in this report.
    46,XX,inv(1)(pq).
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Copel J A, Cullen M, Green J J, Mahoney M J, Hobbins J C, Kleinman C S: The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping. Am. J. Obst. Gynecol. 158:409-413, 1988. [PubMed: 3341415]
    Case 12 at 21 weeks gestation had complete atrioventricular septal defect. Other anomalies found were trisomies of 9, 13, 18, and 21. 45,X and 47,XXY cases were also found.
    Index Terms: Congenital heart defects (cardiovascular anomalies)
    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. I.E.C. (082963) in this report.
    46,XX,t(1;13)(p;p1),22p-.
    Aberration: ST,TD
    No band
  • Gordon R R, Cooke P: Ring-1 chromosome and microcephalic dwarfism. Lancet ii:1212-1213, 1964. [PubMed: 14215563]
    46,XX,r(1).
    Aberration: Ring chromosome
    Index Terms: Microcephaly
    No band
  • Gray J E, Syrett J E, Ritchie K M, Elliott W D: An interstitial translocation: chromosome No. 1p to 4q. Lancet 2:92-93, 1972. [PubMed: 4113335]
    46,XX,inv ins(4;1)(q2;p1 or 2 or 3).,The authors hypothesize that the small terminal region (1pter->1p3 of chromosome No. 1) has been lost.
    Aberration: Inverted insertions within a chromosome
    No band
  • Heyn R, Kurczynski E, Schmickel R D: The association of Blackfan-Diamond syndrome, physical abnormalities, and an abnormality of chromosome 1. J. Ped. 85:531-533, 1974. [PubMed: 4443865]
    46,XX,inv(1)(p-q+).
    Aberration: Inversion pericentric
    Index Terms: Blackfan-Diamond syndrome
    No band
  • Loiudice T A: Male infertility and 21/1 translocation. Southern Med. J. 70:615-616, 1977. [PubMed: 860153]
    27 year-old male with infertility.
    46,XY,t(1p-;21q+).
    Aberration: Simple translocation
    Index Terms: Sterility ... male
    No band
  • Magnelli N C: Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV. Clin. Genet. 9:169-182, 1976. [PubMed: 1248176]
    Case 49 (AF 221140) in this report.
    46,XX,1qh+,p-.&Deletion of terminal portion of the p arm was found. There is an increased centric heterochromatin in 1q.
    Aberration: TD,MA
    No band
  • Mikelsaar A V N, Ananjev E V, Gindilis V M: Probable pericentric inversion in chromosome No. 1 in a female child (46,XX,inv(1p+q-)). Humangenetik 9:316-324, 1970. [PubMed: 5449945]
    46,XX,inv(1)(pq).
    Aberration: Inversion pericentric
    No band
  • Newton M S, Cunningham C, Jacobs P A, Price W H, Fraser I A: Chromosome survey of a hospital for the mentally subnormal. Part 2: Autosome abnormalities. Clin. Genet. 3:226-248, 1972. [PubMed: 4262353]
    M. R. C. Registry No. K137-18-67 in this report.
    46,XY,t(1p-;13q+).&See also 01p130 (Jacobs et al, 1974).
    Aberration: Simple translocation
    No band
  • Petrosky D L, Borgaonkar D S: Segregation analysis in reciprocal translocation carriers. AJMG 19:137-159, 1984. [PubMed: 6496566]
    No band
  • Seleznev Y V, Dzenis I G: Longitudinal differentiation of human mitotic chromosomes. Communication II. Analysis of pericentric inversion of the first chromosome in a child with anomalous sex differentiation. Genetika 8:115-119, 1972. [PubMed: 4421586]
    46,XY/47,XXY,inv(1)(pq).
    Aberration: Inversion pericentric
    No band
  • Sharma G, Sobti R C: A case with 46,XY,1r-46,XY,A-,C+, chromosomal constitution. MCN 15:21, 1974.
    46,XY,r(1).
    Aberration: Ring chromosome
    No band
  • Thompson H: Familial chromosomal translocation with distinctive phenotype due to effective trisomy of No. 9p. BD-OAS XI(No. 5):213-216, 1975. [PubMed: 1218216]
    46,XX,t(1;9)(1qter -> 1pter::9p11 -> 9pter;9qter -> cen).&"46,XX,der(1)t(1;9)mat."
    Aberration: Tandem translocation
    No band
  • Turner J H, Crawford M H, Leyshon W C: Phenotypic-karyotypic localization of the human Rh-locus on chromosome 1. J. Hered. 66:97-99, 1975. [PubMed: 807614]
    An interstitial deletion has been suggested in this report.
    Aberration: Interstitial deletion
    No band
  • Wolf C B, Peterson J A, LoGrippo G A, Weiss L: Ring 1 chromosome and dwarfism - a possible syndrome. J. Ped. 71:719-722, 1967. [PubMed: 6054759]
    46,XX,r(1).
    Aberration: Ring chromosome
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106134

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