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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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  • Barrett I J, Kalousek D K.: Further insights gained from diagnosis of two abnormal cell lines at amniocentesis. Prenat. Diag. 18:635-636, 1998. [PubMed: 9664615]
    Van Ravenswaaij C M A, Tuerlings J H A M, Van Heyst A F J, Nijhuis J G, Niehof J, Smeets D F C M.: Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY,+3/48,XXY,+18 karyotype. Prenat. Diag. 17:375-379, 1997. [PubMed: 9160391]
    Amniotic fluid at 31 weeks=mos47,XY,+3 (61 clones from four culture vessels)/48,XXY,+18 (one clone).,Amniotic fluid at 32 weeks=47,XY,+3 (8 clones).,Amniotic fluid reexamined=mos47,XY,+3 (44 clones)/48,XXY,+18 (one clone).,Blood=48,XXY,+18 (129 cells).,Skin fibroblasts=mos47,XY,+3 (13 cells)/48,XXY,+18 (19 cells).
    The infant had MCA and died 10 days after birth due to cardiorespiratory failure.
    Some other tissues were also studied and a variety of mosaic cell lines, including some normal cells were encountered.
    Index Terms: Pseudomosaicism
  • Cohen M M, Bumbalo T S: Double aneuploidy. Trisomy-18 and Klinefelter''s syndrome. AJDC 113:483-486, 1967. [PubMed: 6023481]
    Index Terms: Klinefelter syndrome
  • Nielsen J, Vetner M, Holm V, Askjaer S A, Reske-Nielsen E, Aizka J: Klinefelter''s syndrome and trisomy 18 in a newborn boy. Clin. Genet. 13:259-264, 1978. [PubMed: 639335]
    Patient died 21 hours after birth.
    Index Terms: Edwards syndrome (trisomy 18),Klinefelter syndrome
  • Rogers R C, Phelan M C, Pulliam L, Albiez K: Double aneuploidy. Proc. Greenwood Genet. Ctr. 5:49-57, 1986.
    Case 1: B.B.S.(GGC-3927).
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105621
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