Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.

@article{Thomas2003GeneticAC,
  title={Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment.},
  author={Janet A. Thomas and John J X Johnson and T L Peterson Kraai and Rebecca F. Wilson and Nicole Tartaglia and Jean-Christophe Leroux and Linda S. Beischel and Loris McGavran and Randi J. Hagerman},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={119A 2},
  pages={111-20}
}
The clinical significance of an interstitial duplication of (15)(q11-q13) remains unclear and controversial. The reported phenotypes vary widely and appear to be influenced by the parent of origin of the duplication. Aside from cases of dup(15) reported with autism, the behavioral phenotype of individuals with dup(15) has not been described. We present three families, two with intrachromosomal duplication (15)(q11-q13) ascertained because of developmental delay in a relative. Two families show… CONTINUE READING
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