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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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04p153

4p15.3
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 18082 in this report.
    46,XX,t(4;22)(p153;q112).&"46,XX,t(4;22)(4qter -> 4p153::22q112 -> 22qter;22pter -> 22q112::4p153 -> 4pter)."&"47,XX,+der(22)t(4;22)(p153;q112)mat."
    Aberration: Reciprocal translocation
    Positive band
  • Bauer K, Howard-Peebles P N, Keele D, Friedman J M: "Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation." AJMG 21:351-356, 1985. [PubMed: 4014316]
    46,XX,t(4;21)(p15.3;q11.2).&46,XY,inv(9)(p11q13).&"45,XY,inv(9)(p11q13)pat,-4,-21,+der(4),t(4;21)(4qter -> 4p15.3::21q11.2 -> 21qter)mat."
    Aberration: Simple translocation
    Index Terms: Wolf-Hirschhorn syndrome
    Positive band
  • 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(4;18)(p153;q23).
    Aberration: Reciprocal translocation
    Positive band
  • Cotter P D, Kaffe S, Li L, Gershin I F, Hirschhorn K.: Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. AJMG 102:76-80, 2001. [PubMed: 11471177]
    46,XX,der(4)del(4)(p16.3)dup(4)(p16.3p15.3).ish der(4)(wcp4+,D4F26-,D4S96+).
    The proposita was a 4 1/2 year old girl with MCA, seizure disorder, and severe growth and MR.
    Aberration: DU,TD
    Chromosomal Aneuploidy: 4p-;4p+
    No band
  • Daniel A, 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. 1232.
    46,XX,inv(4)(p153q12)mat.
    Aberration: Inversion pericentric
    Positive band
  • Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N.: Subtelomeric specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J. Med. Genet. 41:130-136, 2004. [PMC free article: PMC1735677] [PubMed: 14757861]
    WHS1=46,XY.ish der(4)t(4;10)(p16;q26)de novo.,WHS2,3,4 and 5=46,X(X)or(Y),der(4)t(4;5)(p15.3;q35.1)pat.,Father of WHS2=46,XY,t(4;5)(p15.3;q35.1).,WHS3
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-;10q+
  • Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Dune M, Kolvraa S, Lundsteen C.: Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. AJMG 127A:111-117, 2004. [PubMed: 15108196]
    Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case No. 35=46,XX,der(4)t(4;8)(p15.3;p22)pat.,dim(4p15.3->pter)enh(8p22->pter).
    Case ascertained prenatally.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-;8p+
  • Malpuech G, Mattei J F, Gaulme J, Palcoux J B, Lesec G, van Lieferinghen Ph: Association, chez le meme sujet, d''une deletion du bras court du chromosome 4 (4p-) et d''un deficit complet en parahydroxyphenylpyruvate oxydase hepatique (tyrosinase). J. Genet. Hum. 29:455-461, 1981. [PubMed: 7328420]
    Patient, Isabelle D., died.
    46,XX,del(4)(qter -> p153:).
    Aberration: Terminal deletion
    Positive band
  • Shapiro L R, 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 Nos. 500 and 501.
    46,XY,t(4;17)(p153;q12)mat.
    Aberration: Reciprocal translocation
    Positive band
  • Smith A, Watt A J, Cummins M, Gardner R J M, Wilson M: A small one-band paracentric inversion inv(4)(p15.3p16.3). Ann. Genet. 35:161-163, 1992. [PubMed: 1466565]
    46,XY,der inv(4)(p15.3p16.3)mat.
    Maternal grandfather was also a carrier.
    Aberration: Inversion paracentric
    Positive band
  • Stengel-Rutkowski S, Warkotsch A, Stene J: "Familial Wolf''s syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates." Clin. Genet. 25:500-521, 1984. [PubMed: 6539659]
    46,XX,t(4;8)(p15.3;p22).&"46,XY,der(4)der(8)t(4;8)(p15.3;p22)mat."&"46,XY,-4,+der(4)t(4;8)(4qter -> 4p15.3::8p22 -> 8pter)mat."
    Aberration: Simple translocation
    Index Terms: Wolf-Hirschhorn syndrome
    Positive band
  • Tengstrom C, Autio S: Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding. Clin. Genet. 31:53-60, 1987. [PubMed: 3568434]
    Patient N.M. was 13 years old with multiple anomalies.
    46,XX,4p-\?del(4)(p16p15.3)\.
    Aberration: Interstitial deletion
    Positive band
  • Tupler R, Bortotto L, Buhler E M, Alkan M, Malik N J, Bosch-Al Jadooa N, Memo L, Maraschio P: Paternal origin of the de novo deleted chromosome 4 in Wolf-Hirschhorn syndrome. J. Med. Genet. 29:53-55, 1992. [PMC free article: PMC1015823] [PubMed: 1552546]
    Cases 1 to 5.
    46,XX or XY,del(4)(qter -> p15.3:)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106103

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