Molecular and phenotypic characterization of ring chromosome 22.

  title={Molecular and phenotypic characterization of ring chromosome 22.},
  author={Aaron Richard Jeffries and Sarah Curran and Frances V. Elmslie and Ajay Kumar Sharma and Sharon Wenger and Marybeth Hummel and John G. Powell},
  journal={American journal of medical genetics. Part A},
  volume={137 2},
We performed a phenotype study of 35 individuals (19 males, 16 females) with ring chromosome 22 or r(22) with a mean age of 10 years. In common with other studies, a phenotype of moderate-to-profound learning difficulties and delay or absence of speech affected all individuals with the exception of the case with the smallest deletion. Autistic traits were significantly associated with r(22), as shown by an autism screening questionnaire. Mild and variable dysmorphic features, predominantly… CONTINUE READING


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