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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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  • Baumer A, Giovannucci Uzielli M L, Guarducci S, Lapi E, Rothlisberger B, Schinzel A.: Meiotic origin of two ring chromosomes 18 in a girl with developmental delay. AJMG DOI=10.1002/ajmg.10700; 113:101-104, 2002. [PubMed: 12400074]
    Rossi E, Riegel M, Messa J, Gimelli S, Maraschio P, Ciccone R, Stroppi M, Riva P, Perrotta C S, Mattina T, Memo L, Baumer A, Kucinskas V, Castellan C, Schinzel A, Zuffardi O.: Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation. J. Med. Genet. 45: 147-154, 2008. [PubMed: 18006671]
    46,XX,r(18)(p11.32)pterdel 1822.3qter[88]/47,XX,r(18),,+r(18)[112].del18p: 1 Mbdel 18q: 5.4 Mb.
    The 11 year old patient had some dysmorphic features and some developmental problems.
    Maternal origin.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 18q+
  • Portnoi M-F, Gruchy N, Marlin S, Finkel L, Denoyelle F, Dubourg C, Odent S, Siffroi J-P, Le Bouc Y, Houang M.: Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin. Dysmorphol. 16: 247-252, 2007. [PubMed: 17786116]
    Patient 1=46,XX,del(18)(p11.22),t(1;2)(q31.3;q34)mat.,Patient 2=46,XY,der del(18)(p11.23)mat.
    The breakpoint was between RP11-22C7 and RP11-376P6 and between 7.90 and 8.10 Mb.
    Aberration: TD,ID
    Chromosomal Aneuploidy: 18p-
  • Vermeulen S J, Speleman F, Vanransbeeck L, Verspeet J, Menten B, Verschraegen-Spae M-R, De Wilde P, Messiaen L, Michaelis R C, Leroy J G.: Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome. Europ. J. Hum. Genet. 13:52-58, 2005. [PubMed: 15470365]
    46,XXorY,inv(18)(p11.22q23).,46,XXorY,rec(18)dup(18p)/del(18q)mat or pat.,46,XY,rec(18)(dup(18q)/del(18p)pat.
    Proband, VI.1, was 16 years old with learning difficulty.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 18p+;18q+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106744


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