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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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03p211

3p21.1
  • Callen D F, Woollatt E, Sutherland G R: Paracentric inversions in man. Clin. Genet. 27:87-92, 1985. [PubMed: 4040824]
    Pettenati M J, Rao P N.: Response to Drs. Sutherland, Callen, and Gardner. AJMG 59:391-392, 1995.
    Sutherland G R, Callen D F, Gardner R J M.: Paracentric inversions do not normally generate monocentric recombinant chromosomes. AJMG 59:390, 1995. [PubMed: 8599369]
    Patient C.G.
    46,XY,inv(3)(p21.1p25).
    Aberration: Inversion paracentric
    Negative band
  • Drabkin H, Sage M, Helms C, Green P, Gemmill R, Smith D, Erickson P, Hart I, Ferguson-Smith A, Ruddle F H, Tommerup N: "Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13)." Genomics 4:518-529, 1989. [PubMed: 2545596]
    Gemmill R M, Varella-Garcia M, Smith D I, Erickson P, Golembieski W, Miller Y, Coyle-Morris J, Tommerup N, Drabkin H A: A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. Genomics 11:93-102, 1991. [PubMed: 1662666]
    Smith S, Golembieski W, Lui W, Gemmill R, Drabkin H, Smith D: "Progress in the cloning of the 3;7 translocation breakpoint associated with Greig polysyndactyly syndrome." AJHG 47:A262, 1990.
    Tommerup N, Nielsen F: "A familial reciprocal translocation t(3;7)(p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome." AJMG 16:313-321, 1983. [PubMed: 6316787]
    46,XX or XY,der(3)der(7)t(3;7)(3qter -> 3p211::7p13 -> 7pter;7qter -> 7p13::3p211 -> 3pter)mat or pat.
    Aberration: Reciprocal translocation
    MIM#: 175700
    Index Terms: Face ... anomalies,Greig syndrome,Cephalopolysyndactyly
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106598

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