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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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03p241

3p24.1
  • Conte R A, Pitter J H, Verma R S.: Molecular characterization of trisomic segment 3p24.1->3pter: a case with review of the literature. Clin. Genet. 48:49-53, 1995. [PubMed: 7586645]
    46,XY,der(7)t(3;7)(p24.1;p22).
    A case has been made for a 3p trisomy syndrome.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3p+
    Positive band
  • Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki T, Ihara M, Kinoshita A, Yoshiura K-i, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N.: Heterozygous TGFBR2 mutations in Marfan syndrome. Nature Genet. 36:855-860, 2004. [PMC free article: PMC2230615] [PubMed: 15235604]
    46,XY,t(1;5;4)(p35;q33.2;q35),ins(3)(q11.2;p24.1p14.2)de novo
    The patient was a 13-year-old boy with MFS.
    Aberration: IN,CT
    MIM#: 154705
    Index Terms: MFS2,TGFBR2
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106219

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