Rothmund-Thomson Syndrome

Publication Details

  • Der Kaloustian V M, McGill J J, Vekemans M J J, Kopelman H R: Clonal lines of aneuploid cells in Rothmund-Thomson syndrome. AJMG 37:336-339, 1990. [PubMed: 2260560]
    Patient J.M.
    47,XY,+8/47,XY,+i(2q)/46,XY,-17,+der(17),t(2;17)(q11;p13).
    Patient was 21 months old.
    A question has been raised whether this syndrome can be a chromosome instability syndrome.
    MIM#: 268400

  • Orstavik K H, McFadden N, Hagelsteen J, Ormerod E, van der Hagen C B.: Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome. J. Med. Genet. 31:570-572, 1994. [PMC free article: PMC1049982] [PubMed: 7966195]