Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

@article{Descipio2005SubtelomericDO,
  title={Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.},
  author={Cheryl Descipio and Lori Schneider and Terri L Young and Nora F. Wasserman and Dinah Yaeger and Fengmin Lu and Patricia G. Wheeler and Marc S. Williams and Lynn D Bason and Lori Jukofsky and Ammini K Menon and Ryan D. Geschwindt and Albert E. Chudley and J. Miguel Saraiva and Albert A G L Schinzel and Agn{\`e}s Guichet and William E Dobyns and Annick Toutain and Nancy B. Spinner and Ian D. Krantz},
  journal={American journal of medical genetics. Part A},
  year={2005},
  volume={134A 1},
  pages={3-11}
}
We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical… CONTINUE READING
29 Extracted Citations
0 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 29 extracted citations

Similar Papers

Loading similar papers…