06q211

6q21.1

Publication Details

  • Peeters H, Debeer Ph, Groenen P, van Esch H, Vanderlinden G, Eyskens B, Mertens L, Gewillig M, Van de Ven W, Fryns J-P, Devriendt K.: Recurrent involvement of chromosomal region 6q21 in heterotaxy. AJMG 103:44-47, 2001. [PubMed: 11562933]
    46,XX,t(6;20)(q21.1;p13)de novo.
    At the gestational age of 28 weeks, atrioventricular septal defect and abdominal situs inversus were detected. Mild to moderate developmental delay was evident at the age of one year.
    Aberration: Reciprocal translocation
    MIM#: 121014
    Index Terms: Heterotax(y),Atrioventricular septal defect,Abdominal Situs inversus