Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

@article{Horn2004MinimalCE,
  title={Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.},
  author={Denise Horn and Holger Toennies and Heidemarie Neitzel and Dagmar Wahl and Georg Hinkel and Arpad von Moers and Oliver Bartsch},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={128A 1},
  pages={85-92}
}
We report clinical, cytogenetic, and molecular cytogenetic studies on four patients with subtle or submicroscopic 7q36 deletions either of de novo origin or resulting from a cryptic parental translocation. Fluorescence in situ hybridization (FISH) studies indicated that in all four patients, the Sonic Hedgehog gene (SHH) and the homeobox gene HLXB9, among others, are comprised in the deletions. Besides mental retardation and short stature, all patients showed only minimal manifestations of the… CONTINUE READING
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