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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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03q2633

3q26.33
  • Guichet A, Triau S, Lepinard C, Esculapavit C, Biquard F, Descamps P, Encha-Razavi F, Bonneau D.: Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Prenat. Diag. 24:828-832, 2004. [PubMed: 15503273]
    46,XX,del(3)(q26.3q28)de novo.,46,XX,del(3)(q26.33q28).ish del(3)(RP11-416O18-, RP11-43F17+, D3S4560x2).
    Pregnancy terminated at 27th week.
    Aberration: Interstitial deletion
    MIM#: 184429
    Chromosomal Aneuploidy: 3q-
    Index Terms: Anophthalmia primary,SOX2
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106369

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