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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 03p100,110000 (Breg et al, 1972).
  • Chen C-P, Chern S-R, Lee C-C, Town D-D.: Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence. Prenat. Diag. 18:1068-1074, 1998. [PubMed: 9826899]
    46,XX,i(18)(q10)de novo
    Sonographic examination, at 15 weeks, showed IUGR, congenital megacystis, and oligohydramnios.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 18q+
    Index Terms: Cloacal dysgenesis sequence,megacystis congenital
  • McGhee E M, Qu Y, Wohlferd M M, Goldberg J D, Norton M E, Cotter P D.: Prenatal diagnosis and characterization of an unbalanced whole arm translocation resulting in monosomy for 18p. Clin. Genet. 59:274-278, 2001. [PubMed: 11298684]
    45,XX,der(18;22)(q10;q10)de novo
    Holoprosencephaly was identified by ultrasound at 15 weeks of gestation. Aminocentesis was performed at 15 weeks of gestation on a 34 year-old woman.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18p-
    No band
  • Surh L C, Ledbetter D H, Greenberg F: Interstitial deletion of chromosome 18\del(18)(q11.2q12.2 or q12.2q21.1)\. AJMG 41:15-17, 1991. [PubMed: 1719812]
    46,XY,del(18)(q11.2q12.2 or q12.2q21.1)de novo.
    The 27-month-old patient had MCA/MR.
    A case has been made for a distinct syndrome resulting from a deletion of the proximal region as opposed to the distal segment.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 18q-
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106216


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