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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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01p211

1p21.1
  • Rothlisberger B, Zerova T E, Kotzot D, Buzhievskaya T I, Balmer D, Schinzel A.: Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child. J. Med. Genet. 38:885-888, 2001. [PMC free article: PMC1734780] [PubMed: 11768396]
    47,XX,UPD(1)mat,+der(1)(p21.1q12)/46,XX,UPD(1)mat.
    The 6 year old was investigated because of MR and dysmorphic features.
    Aberration: Uniparental disomy
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106125

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