Tertiary trisomy (22q11q),47,+der(22),t(11;22)

  title={Tertiary trisomy (22q11q),47,+der(22),t(11;22)},
  author={Brian Biederman and Cheng Chieh Lin and R. Brian Lowry and Ronald L. Somerville},
  journal={Human Genetics},
We describe a case of tertiary trisomy (22q11q) 47,XX,+der(22),(22pter→22q13: : 11q25→11qter) in a child with mental retardation, cleft palate, and congenital heart disease resulting from 3: 1 meiotic nondisjunction in a maternal (11;22) translocation carrier. The clinical findings in previously reported cases are reviewed and compared with the features of… CONTINUE READING