A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

@article{Roos2009ANM,
  title={A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.},
  author={Laura Kirstine S\onderberg Roos and Aia Elise J\onch and Susanne Kjaergaard and Karen Taudorf and Henrik Simonsen and Bente Hamborg-Petersen and Karen Br\ondum-Nielsen and Maria Kirchhoff},
  journal={Journal of medical genetics},
  year={2009},
  volume={46 10},
  pages={703-10}
}
BACKGROUND The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and some that await further delineation. This report describes three children with de novo 17p13.1 duplications encompassing the PAFAH1B1 gene, who had similar phenotypic features, including mild to moderate… CONTINUE READING

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Report of a child with a complete de novo 17 p duplication localized to the terminal region of the long arm of chromosome 17

GA Paskulin, Zen PRG, Rosa RFM, RC Manique, PD Cotter
Am J Med Genet • 2007

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