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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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Mosaic Variegated Aneuploidy

  • Flejter W L, Issa B, Sullivan B A, Carey J C, Brothman A R.: Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review. AJMG 75:45-51, 1998. [PubMed: 9450856]
    Patients KR and TR:
    mos46,XX/48,XX,+8,+18 cell line was found in both probands. However, several other cell lines were also present. Both parents had some other mosaic lines.
    Microcephaly and growth deficiency, along with hypo/hyperpigmentation was present in both the sibs.
    MIM#: 257300
    Index Terms: Mosaic variegated aneuploidy
  • Limwongse C, Schwartz S, Bocian M, Robin N H.: Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma. AJMG 82:20-24, 1999. [PubMed: 9916837]
    Amniotic fluid (27 weeks)=mos46,XY[52]/47,XY[3].,Cord blood (at birth)=mos46,XY[58]/47,XY,+13[1]/47,XY,+18[1]/,47,XY,+22[1]/48,XY,+17[2]/47,XXY[1]/50,XXY,+13,+16,+17[1].,Blood (at 18 months)=mos45,XY,-10[1]/45,XY,-16[1]/45,XY,-19[1]/,45,XY,-20[1]/46,XY[39]/47,XY,+7[1]/47,XY,+8[1]/47,XY,+13[1]/47,XY,+16[1]/47,XY,+20[1]/47,XY,+21[1]/47,XXY[1].,Blood (at 7 years)=46,XY[24]/47,XY,+8[1]/47,XY,+9[1]/,47,XY,+21[1]/48,XY,+13,+13[2]/48,XY,+18,+18[2]/48,XY,+22,+22[2]/48,XY,+5,+18[1]/49,XY,+21,+21,+22[1]/92,XXYY[1].,Skin (at 7 years)=46,XY[20].,Sarcoma= culture-46,XY[18]; direct-68-70,XY,+Y,+2,+3,+5,+7,+8,,+8,+8,+8,+8,+8,+8,+8,+11,+11,+12,+21,+3mar[2].
    At the age of 7 years he developed embryonal rhabdomyosarcoma.
    Index Terms: Mosaic variegated aneuploidy,Rhabdomyosarcoma
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107064


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