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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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07p122

7p12.2
  • Schaefer G B, Novak K, Steele D, Buehler B, Smith S, Zaleski D, Pickering D, Nelson M, Sanger W.: Familial inverted duplication 7p. AJMG 56:184-187, 1995. [PubMed: 7542835]
    46,XX,dup(7)(p13p12.2)mat.
    The patient was evaluated at the age of 10 months for developmental delay and failure to thrive.
    The proband''s older brother, mother and grandmother also had the same chromosome 7 duplication and were cognitively delayed.
    Aberration: Duplication
    Chromosomal Aneuploidy: 7p+
    Index Terms: Duplications ... inverted
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106250

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