7q11.23 Microduplication: a recognizable phenotype.

  title={7q11.23 Microduplication: a recognizable phenotype.},
  author={Abhijit Dixit and Shane McKee and Sahar Mansour and Sarju G Mehta and George A. Tanteles and Violetta Anastasiadou and Philippos C. Patsalis and Kathleen Martin and S McCullough and Misty Suri and Anjushree Sarkar},
  journal={Clinical genetics},
  volume={83 2},
Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the published literature. We conclude that the presence of specific dysmorphic features… CONTINUE READING


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