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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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  • Same entry as in 05p120 (Perfumo et al, 2000).

  • Drazinic C M, Ercan-Sencicek A G, Gault L M, Hisama F M, Qumsiyeh M B, Nowak N J, Cubells J F, State M W.: Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23). AJMG DOI=10.1002/ajmg.a.30616; 134A:282-289, 2005. [PubMed: 15754353]
    Patient was a 45-year-old woman with distinctive facial and dysmorphic features, moderate MR, and a history of chronic intermittent psychosis.
    Loss of chromosome 18p telomeric to BAC RP11-789C17, from position 8,237,338 to 8,437,824 was shown. 18p deletion included RP11-260F12 but not clone RP11-262C5 placing the breakpoint between approximately 8,300,000 and 8,360,000, a 60,000 base pair region disrupting the 5'' extent of PTRPM, "protein tyrosine phosphatase, receptor type, M". The duplicated chromosome 5p was mapped telomeric to BAC RP11-90G17, which spans 25,152,630 to 25,320,426. The 5p breakpoint was shown to be between RP11-90F2 and RP11-351N6, a 160,000 base pair region.
    Aberration: Simple translocation
    MIM#: 176888
    Chromosomal Aneuploidy: 5p+;18p-
    Index Terms: Psychosis,PTPRM
  • Hand J L, Michels V V, Marinello M J, Ketterling R P, Jalal S M.: Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation. Prenat. Diag. 20:144-148, 2000. [PubMed: 10694687]
    46,XY,der del(5)(p14.1p14.3)mat.
    The patient was 19 years old with peroxisomal disorder.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5p-
  • Same entry as in 01p311 (Kausch K et al, 1988).

  • Smart R D, Retief A E, Overhauser J: Confirmation of a balanced chromosomal translocation using molecular techniques. Prenat. Diag. 9:505-513, 1989. [PubMed: 2771889]
    46,XX,t(5;9)(5qter -> 5p14.1::9p22 -> 9pter;9qter -> 9p22::5p14.1 -> 5pter).&"46,XY,dert(5;9)(p14.1;p22)mat."
    The couple had had three babies with cri-du-chat syndrome.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 5p-,9p+
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105942
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