01p131

1p13.1

Publication Details

  • Bailey S M, Meyne J, Cornforth M N, McConnell T S, Goodwin E H.: A new method for detecting pericentric inversions using COD-FISH. Cytogenet. Cell Genet. 75:248-253, 1996. [PubMed: 9067435]
    46,XX,del inv(1)(pter->p13.1::q21.1->p13.1::q21.1->q42.3:)
    The cell line is contributed by Dr. B. Emanuel of Philadelphia.
    Aberration: Inversion pericentric
    No band

  • Bisgaard A-M, Rasmussen L N, Moller H U, Kirchhoff M, Bryndorf T.: Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata. Clin. Dysmorphology 16: 109-112, 2007. [PubMed: 17351355]
    46,XX,ish cgh del(1)(p13.1p21.1)dn
    The 13 year old patient had severe MR, short stature and dysmorphic features including colobomata.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    Index Terms: Colobomata

  • Kleczkowska A, Fryns J P, Van den Berghe H: On the variable effect of mosaic normal/balanced chromosomal rearrangements in man. J. Med. Genet. 27:505-507, 1990. [PMC free article: PMC1017199] [PubMed: 2213843]
    Patient 1
    mos46,XY/46,XY,t(1;9)(p13.1;p12.2).&"46,XX,dert(1;9)(p13.1;p12.2)pat."
    The finding of the translocation was fortuitous. The fetuses were aborted spontaneously.
    Aberration: Reciprocal translocation
    Negative band

  • lo I F M, Cheung L Y K, Ng A Y Y, Lam S T S.: Interstitial dup(1p) with findings of Kabuki make-up syndrome. AJMG 78:55-57, 1998. [PubMed: 9637424]
    The 8 yo patient was referred because of mild MR.
    46,XY,dup(1)(1qter->1p31::?::p22.1-1pter)de novo
    Other features present were small head, eversion of the lateral part of lower eyelids, epicanthic folds, lateral flare of the eyebrows, short columella, and persistent fetal finger pads.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1p+
    Index Terms: Kabuki Make-up (Niikawa-Kuroki) syndrome,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,

  • Ma G-C, Ke Y-Y, Lee M-L, Tsao L-Y, Lee D-J, Yang C-W, Kuo S-J, Chiu H-Y, Chen M.: De novo segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple anomalies. AJMG Part A: DOI=10.1002/ajmg.a.33157; 152A: 784-788, 2010. [PubMed: 20140964]
    46,XX,dup(1)(1p13p13)dn.arr 1p21.1p13.1(106737129-116445741)x3, der(4)t(1;4)(q32;q35)dn.ish der(4)t(1;4)(q44+,q35-).arr 1q32.2(205976659-247190770)x3, 4q35.1(184230890-191173881)x1.
    The girl died of pneumonia at age 16 months.
    Aberration: DU,TD
    Chromosomal Aneuploidy: 1p+; 1q+; 4q-
    Index Terms: Triple segmental aneuploidy

  • Schwartz S, Beisel J H, Panny S R, Cohen M M: A complex rearrangement, including a deleted 8q, in a case of Langer-Giedion syndrome. Clin. Genet. 27:175-182, 1985. [PubMed: 3872186]
    46,XY,t(1;8;14)(1pter -> 1p13.1::14q12 -> 14pter;1qter -> 1p13.1::8q24.13 -> 8qter;14qter -> 14q12::8p23.3 -> 8q24.11:).
    Aberration: Complex translocation
    MIM#: 150230
    Index Terms: Langer-Giedion syndrome
    Negative band

  • Tupler R, Maraschio P, Gerardo A, Mainieri R, Lanzi G, Tiepolo L: A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33 to 4q35.1. J. Med. Genet. 29:253-255, 1992. [PMC free article: PMC1015926] [PubMed: 1583646]
    46,XX,t(1;2;4;11)(2qter -> 2q11.2::1p13.1 -> 1q25::11p13 -> 11p11.11::1q25 -> 1qter;2pter -> 2q11.2::4q31.1 -> 4q33::4q35.1 -> 4qter; 4pter -> 4q31.1::11q13.1 -> 11q23::1p13.1 -> 1pter;11pter -> 11p13::11p11.11 -> 11q13.1::11q23 -> 11qter)de novo.
    Aberration: Complex translocation
    MIM#: 194050
    Index Terms: Williams syndrome
    Negative band

  • Xu J, Fong C-T, Cedrone E, Sullivan J, Wang N.: Prenatal identification of de novo marker chromosomes using micro-FISH appoach. Clin. Genet. 53:490-496, 1998. [PubMed: 9712542]
    Case 3:
    47,XX,+r/46,XX.rev ish r(1)(p13.1q21.3)de novo
    The infant had MCA and died 6 weeks after birth.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 1p+;1q+