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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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  • Descartes M.: Oculoauriculovertebral spectrum with 5p15.33-pter deletion. Clin. Dysmorphol. 15: 153-154, 2006. [PubMed: 16760734]
    The patient was 9 months old.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 5p-
    Index Terms: Oculoauriculovertebral spectrum
  • 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]
    Patient N03R017=46,XY.ish der(5)t(5;20)(p15.33;p13)pat.
    The 15 month old boy presented with minor craniofacial anomalies and severe developmental delay.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5p-;20p+
  • Stathopulu E, Mackie Ogilvie C, Flinter F A.: Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. AJMG DOI=10.1002/ajmg.a.10268;119A:363-366, 2003. [PubMed: 12784307]
    46,XY,del(5)(p15.33).ish del(5)(5psubtel-,D5S23+)de novo.
    Patient was 16 years old wuth dysmorphic features and behavior problems.
    Aberration: Terminal deletion
    MIM#: 309520
    Chromosomal Aneuploidy: 5p-
    Index Terms: Lujan-Fryns syndrome
  • Wakita Y, Narahara K, Kikkawa K, Namba H, Hiramoto K, Eguchi K, Matsubara T, Kimoto H: Distal 14q trisomy syndrome in two siblings: further delineation of its phenotype. Jpn. J. Hum. Genet. 33:469-475, 1988. [PubMed: 3251080]
    46,XX,t(5;14)(p15.33;q31.2).&"46,XY,-5,+der(5),t(5;14)(5qter -> 5p15.33::14q31.2 -> 14qter)mat."
    Characterstics described were mental retardation, growth failure, frontal bossing, facial asymmetry, hypertelorism, sparse eyebrows and eyelashes, short prominent nose, cupid bow upperlip, micrognathia, and low-set and posteriorly rotated ears.
    Case 1 died at one month of age and the second pregnancy was terminated.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 14q+,5p-
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106696


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