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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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08p2311

8p23.11
  • Marshall O J, Chueh A C, Wong L H, Choo K H A.: Review-Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution. AJHG 82: 261-282, 2008. [PMC free article: PMC2427194] [PubMed: 18252209]
    Voullaire, L, Safferty R, Earle E, Irvine D V, Slater H, Dale S, du Sart D, Fleming T, Choo K H A.: Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event. AJMG 102:86-94, 2001. [PubMed: 11471179]
    Patient 1:DH.
    47,XY,+mar.rev ish inv dup(8)(pter->p23.2[neocentromere],p23.2->p23.11::p23.11->pter)/46,XY
    Patient 2: AC.
    47,XY,mar rev ish inv dup(8)(pter->p23.2[neocentromere],p23.2->p23.1::p23.1->pter)/46,XY.
    Both patients were investigated for more than a decade and their mosaic state did not change appreciably during this time.
    Aberration: Duplication
    Chromosomal Aneuploidy: 8p+
    Index Terms: Neocentromer(ization)
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107137

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