A family with a grand-maternally derived interstitial duplication of proximal 15q.

@article{Boyar2001AFW,
  title={A family with a grand-maternally derived interstitial duplication of proximal 15q.},
  author={Fatih Z. Boyar and Michael M. Whitney and Amy C Lossie and Brian Allen Gray and Kory L Keller and Heather J Stalker and Robert T Zori and Gary R. Geffken and Jim Mutch and P. J. Edge and Kytja K. S. Voeller and Charles A. Williams and David J. Driscoll},
  journal={Clinical genetics},
  year={2001},
  volume={60 6},
  pages={421-30}
}
About 1% of individuals with autism or types of pervasive developmental disorder have a duplication of the 15q11-q13 region. These abnormalities can be detected by routine G-banded chromosome study, showing an extra marker chromosome, or demonstrated by fluorescence in situ hybridization (FISH) analysis, revealing an interstitial duplication. We report here the molecular, cytogenetic, clinical and neuropsychiatric evaluations of a family in whom 3 of 4 siblings inherited an interstitial… CONTINUE READING

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