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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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12p122

12p12.2
  • Kivlin J D, Fineman R M, Williams M S: Phenotypic variation in the del(12p) syndrome. AJMG 22:769-779, 1985. [PubMed: 4073126]
    The infant died at home after 8 weeks.
    46,XX,del(12)(qter -> p12.2:).
    Aberration: Terminal deletion
    Negative band
  • Tayel S, McCorquodale M M, Rutherford T, Kurczynski T W, Abdel-Aziz A M, El-Gabaldy F, Sharaf E A: A case of de novo trisomy 12p syndrome. Clin. Genet. 35:382-386, 1989. [PubMed: 2758689]
    M.H.
    46,XY,dup(12)(p12.2 -> pter)de novo.
    Patient was 14 years old and showed developmental delay, a high bulging forehead, broad and flat nasal bridge, large mouth with everted lower lip, folded upper ear helix with protuberant antihelix, pectus excavatum, undescended testes, flat feet, generalized hypotonia and moderate mental retardation.
    Dosage study with LDH-B helped in deciphering the chromosomal status.
    Aberration: Duplication
    Chromosomal Aneuploidy: 12p+
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106124

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