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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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  • Ceccarini C, Sinibaldi L, Bernardini L, De Simone R, Mingarelli R, Novelli A, Dallapiccola B.: Duplication 18q21.31-q22.2. AJMG Part A: 143A: 343-348, 2007. [PubMed: 17256793]
    Mother=46,XX,dup(18)(q21.31q22.2)[90]/46,XX[10].,Three sibs=46,X(X or Y),der dup(18)(q21.31q22.2)mat.
    All 3 siblings have mild MR and minor dysmorphic features.
    Aberration: Duplication
    Chromosomal Aneuploidy: 18q+
  • Hagerman R, Berry R, Jackson A W III, Campbell J, Smith A C M, McGavran L: Institutional screening for the fragile X syndrome. AJDC 142:1216-1221, 1988. [PubMed: 3177330]
    Case 14
    Aberration: Terminal deletion
    Negative band
  • Lipschutz W, Cadranel S, Lipschutz B, Martin L, Clees N, Martin J-J, Wauters J G, Coucke P, Willems P.: 18q- syndrome with coeliac disease. Europ. J. Ped. 158:528, 1999. [PubMed: 10378408]
    46,XY,del(18)(q21.31->qter)de novo
    At the age of 18 years he showed a VIQ of 97, a PIQ of 82, and TIQ of 89 using WAIS. At birth he presented with congenital hips subluxation, inguinal hernia, sublingual frenulum and prognathism. He was diagnosed with coeliac disease at the age of one year.
    The paternal copy of the basic myelin protein gene was deleted.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18q-
    Index Terms: Coeliac disease
  • Zannolli R, Pierluigi M, Pucci L, Lagrasta N, Gasparre O, Matera M R, Di Bartolo R M, Mazzei M A, Sacco P, Miracco C, de Santi M M, Aitiani P, Cavani S, Pellegrini L, Fimiani M, Alessandrini C, Galluzzi P, Livi W, Gonnelli S, Terrosi-Vagnoli P, Zappella M, Morgese G.: 18q- syndrome and ectodermal dysplasia syndrome: description of a child and his family. AJMG 116A:192-199, 2003. [PubMed: 12494443]
    The 9 year old has a wide spectrum of abnormalities.
    Aberration: Terminal deletion
    MIM#: 601808
    Chromosomal Aneuploidy: 18q-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105429
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