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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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01q4211

1q42.11
  • Bortotto L, Piovan E, Furlan R, Rivera H, Zuffardi O: Chromosome imbalance, normal phenotype, and imprinting. J. Med. Genet. 27:527-528, 1990. [PMC free article: PMC1017222] [PubMed: 2231652]
    46,XY,dir dup(1)(pter -> q42.11::q4211 -> q42.12::q42.11 -> qter).
    A review and discussion follows the reports of patients with normal phenotype and abnormal karyotypes.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 1q+
    Index Terms: Imprinting
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105806

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