Aortopathy in the 7q11.23 microduplication syndrome.

  title={Aortopathy in the 7q11.23 microduplication syndrome.},
  author={A. Kevin Parrott and Jeanne James and Paula Goldenberg and Robert B. Hinton and Erin C. Miller and Amy R. Shikany and Arthur S. Aylsworth and Kathleen A. Kaiser-Rogers and Sunita Juliana Ferns and Seema R. Lalani and Stephanie M. Ware},
  journal={American journal of medical genetics. Part A},
  volume={167A 2},
The 7q11.23 microduplication syndrome, caused by the reciprocal duplication of the Williams-Beuren syndrome deletion region, is a genomic disorder with an emerging clinical phenotype. Dysmorphic features, congenital anomalies, hypotonia, developmental delay highlighted by variable speech delay, and autistic features are characteristic findings. Congenital heart defects, most commonly patent ductus arteriosus, have been reported in a minority of cases. Included in the duplicated region is… CONTINUE READING