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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Same entry as in 01p3631 (Youings et al, 2003).

  • Same entry as in 11p110 (Autio-Harmainen and de, 1980).

  • Legius E, Wlodarska I, Selleri L, Evans G A, Wu R, Smet G, Fryns J P.: De novo 46,XX,dir dup (11)(q13.3->q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia. Clin. Genet. 49:206-210, 1996. [PubMed: 8828987]
    46,XX,dir dup(11)(q13.3->q14.2)de novo.
    The patient was 31 years old with mild to moderate MR, facial dysmorphy, congenital cardiopathy, and mild thrombopenia. also noted at birth retrognathia, sacral dimple, joint hypermobility and a CHD (VSD and pulmonic valve stenosis).
    FISH with cosmid probes CNTF1, ZNF6, c11q-2d4, c11q-2g9 and c11q-1b4 indicates duplication of segment containing these loci.
    Aberration: Direct duplication
    Chromosomal Aneuploidy: 11q+
    Index Terms: Thrombopenia
    Negative band
  • Liu J Y, Wang X R, Zeng X L, Zhang C S, Hao S, Song Y C.: Molecular cytogenetic characterization of a familial balanced reciprocal translocation t(11;18)(q13.3;q23) associated with pregnancy wastage. Cytogenet. Genome Res. 103:8-13, 2004. [PubMed: 15004456]
    Proband=46,XY,der t(11;18)(q13.3;q23)mat.
    Proband was 30 years old and his wife had 5 spontaneous abortions.
    Several members of the family had the balanced translocation. None of the abortuses were karyotyped.
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy wastage
  • Same entry as in 01p213 (Sutherland G R, 1991).

  • Same entry as in 05p151 (Wallerstein et al, 1996).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106878
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