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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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01q112

1q11.2
  • Toncheva D, Dimitrov T, Tzoneva M: Cytogenetic studies in Balkan endemic nephropathy. Naphron 48:18-21, 1988. [PubMed: 3422361]
    15 patients with Balkan endemic nephropathy (BEN), also called Danubian endemic familial nephropathy (DEFN), and other controls were studied.
    mos46,XY/46,XY,t(1;3)(q11.2;q25).,t(2;3)(p11.2;q25) in 1/30 tetraploid cell.,Discrepancies in bands 3q24, q25, q26.1, and q26.3 were also found.
    It is hypothesized that the critical region for BEN (DEFN) is 3q25.
    MIM#: 124100
    Index Terms: Balkan endemic nephropathy,Danubian endemic familial nephropathy
    Variable band
  • Toncheva D, Genkova P, Tzoneva M, Lozanova T, Angelova E, Mitreva B: Reproductive failure in a carrier of inv dupl 1(q21.4 to q12). Acta Paed. Hung. 27:61-66, 1986. [PubMed: 3730184]
    Proband VCV was 18 months old.
    46,XY,inv dup (1)(q21.4 -> q12).&46,XX,inv dup (1)(q21.4 -> q12),del(1)(q11.2).
    Aberration: Duplication
    Chromosomal Aneuploidy: 1q+
    Variable band
  • Verma R S, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 63
    46,XX,t(1;7)(q11.2;q22)pat.
    Aberration: Reciprocal translocation
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107145
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