02p121

2p12.1

Publication Details

  • Lebbar A, Callier P, Baverel F, Marle N, Patrat C, Le Tessier D, Mugneret F, Dupont J-M.: Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility. AJMG Part A: 146A: 2651-2656, 2008. [PubMed: 18798330]
    Patient 1 was 52 years old with secondary infertility.
    mos46,XY,t(9;12;14)(q32;q31;q32)[9]/46,XY[41].,Revised=mos46,XY,der(9)t(9;12)(q32;p13),der(12)(14qter->14q32::12p13->12q13::9q32->9qter),der(14)t(12;14)(q13;q32.2)/46,XY.ish der(9)(wcp9+,wcp12+,subtel12p+),der(12)(subtel14q+,wcp12+,wcp9+,subtel19q+),der(14)(wcp14+,wcp12+,subtel12q+).
    Patient 2 was 40 years old and was being evaluated for IVF..
    mos46,XY,der(2)(12pter->12p131::2p121->2qter),der(4)ins(4;2)(p15.1p23.3-p13.3),der(12)(2pter->2p24::12p12.3->12qter)[6]/46.XY[14].ish der(2)(subtel 12p+,wcp12+,wcp2+),der(4)(wcp4+,wcp2+,wcp4+),der(12)(subtel2p+,wcp2+,wcp12+).
    Aberration: Complex translocation