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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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  • Same entry as in 01p36.11 (Youings et al, 2003).
  • Bruno D L, Burgess T, Ren H, Nouri S, Pertile M D, Francis D I, Norris F, Kenney B K, Schouten J, Choo K H A, Slater H R.: High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. AJMG Part A: DOI=10.1002/ajmg.a.31552, 2006. [PubMed: 17106871]
    Case 63:46,XY,der(4)t(4;13)(p15.32;q32)pat.del4p(subtel);dup13q(subtel)(M).,Case 95: del4p(subtel);dup13q(subtel)(F)
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-;13q+
    Index Terms: Multiplex Ligation-Dependent Probe Amplification (MLPA) subtelomere assay
  • Castro-Felix L P, Ramirez M L, Valera-Huezo S, Matute E, Rivas F, Rivera H, Moller M, Cantu J M: De novo del(4)(p15.32) with incomplete expression of the Wolf-Hirschhorn syndrome. Clin. Genet. 29:439-444, 1986. [PubMed: 2427265]
    Parental karyotypes were normal.
    46,XX,del(4)(p15.32 -> pter).
    Patient was 7 years and 7 months old.
    Aberration: Terminal deletion
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
  • Hirsch B, Baldinger S: Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred. AJMG 45:5-8, 1993. [PubMed: 8418660]
    A 3 generation family, with 4 carriers and 2 recombinants.
    46,XX or XY,der inv(4)(p15.32q35)mat or pat.,Proband III-1:46,XX,rec(4)dup q,inv(4)(p15.32q35)pat.,Patient II-5:46,XX,rec(4)dup p,inv(4)(p15.32q35)mat.
    The proband and the aunt had MCA/MR.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 4p+,4q+
    Negative band
  • Kohlschmidt N, Zielinski J, Brude E, Schafer D, Olert J, Hallermann C, Coerdt W, Arnemann J.: Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS). Prenat. Diag. 20:152-155, 2000. [PubMed: 10694689]
    Case 1:47,XX,+der(18)t(4;18)(p15.32;p11.21)pat.,Case 2:46,XY,der(4)t(4;18)(p15.32;p11.21)pat.,Case 3:46,XY,t(4;18)pat
    Case 2 was the index case.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 4p-;18p+
    Index Terms: WHS
    No band
  • Kozma C, Hunt M, Meck J, Traboulsi E, Scribanu N: Familial Wolf-Hirschhorn syndrome associated with Rieger anomaly of the eye. Ophthal. Paediat. Genet. 11:23-30, 1989. [PubMed: 2348979]
    46,XY,t(4;10)(p15.32;q25.2).&"46,XY,-4,+der(4),t(4;10)(4qter -> 4p15.32::10q25.2 -> 10qter)pat."&"46,XX,der(4)der(10)t(4;10)(p15.32;q25.2)pat."
    Patient with growth retardation and multiple anomalies including bilateral cleft lip and palate, large glabella and broad nasal bridge, Rieger anomaly, nasolacrimal duct obstruction, mild microphthalmia bilaterally, shawl scrotum, nail hypoplasia and skin hypoplasia.
    Aberration: Reciprocal translocation
    MIM#: 180500
    Chromosomal Aneuploidy: 4p-
    Negative band
  • Narahara K, Himoto Y, Yokoyama Y, Kasai R, Hata A, Kikkawa K, Takahashi Y, Wakita Y, Kimura S, Kimoto H: The critical monosomic segment involved in 4p- syndrome: a high-resolution banding study on five inherited cases. Jpn. J. Hum. Genet. 29:403-413, 1984. [PubMed: 6535856]
    46,XY,inv ins(4;9)(9pter -> 9q34.3::4p16.3 -> 4p15.32::9q34.3 -> 9qter).
    Case 2.
    46,XX,-4,+der(4),inv ins(4;9)(p15.32p16.3;q34.3)pat.
    Aberration: Inverted insertions between chromosomes
    Negative band
  • Ogle R, Sillence D O, Merrick A, Ell J, Lo B, Robson L, Smith A.: The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome. AJMG 65:124-127, 1996. [PubMed: 8911603]
    Mother:46,XX,inv(4)(p15.32q35);,46,XY,rec(4)dup q,inv(4)(p15.32q35)mat.
    The patient was profoundly intellectually disabled, and had left hemiplagia, epilepsy, atrophy of the right cerebral hemisphere, and dilatation of the right ventricle. He had a small VSD, was wheelchair bound, and totally dependent. He had no speech, but vocalised to show his feelings.
    Positive signal with probe D4S96 (Oncor) was seen only on one chromosome 4 in the patient.
    Aberration: Inversion pericentric
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome ... via recombinant chromosome
    Negative band
  • Sgro V, Riva E, Canevini M P, Colamaria V, Rottoli A, Minotti L, Canger R, Dalla Bernardina B.: 4p- syndrome: a chromosomal disorder associated with a particular EEG pattern. Epilepsia 36:1206-1214, 1995. [PubMed: 7489698]
    Cases 1 and 3:
    46,XY,del(4)(p15.32)de novo
    Aberration: Terminal deletion
    MIM#: 194190
    Chromosomal Aneuploidy: 4p-
    Negative band
  • Wheeler P G, Weaver D D, Palmer C G.: Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome. AJMG 55:462-465, 1995. [PubMed: 7762587]
    FNo. 87244: Patient 1-individual V-2:
    The translocation was traced to 4 generations; 2 affected and 3 carriers were found in this kindred.
    Aberration: Reciprocal translocation
    MIM#: 194190
    Chromosomal Aneuploidy: 4p-
    Index Terms: Wolf-Hirschhorn syndrome
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106862


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