Terminal 7p deletion and 1;7 translocation associated with craniosynostosis

  title={Terminal 7p deletion and 1;7 translocation associated with craniosynostosis},
  author={R. K. Dhadial and Michael F. Smith},
  journal={Human Genetics},
A female infant with presumptive deletion of the 7p2 region and an unusual translocation between a part of the short arm of chromosome 1 and a deleted chromosome 7 is described. The patient showed congenital craniosynostosis of the coronal and metopic sutures; marked turricephaly; hypotelorism; deeply cleft palate; shallow orbits with prominent bulging eyes; a depressed nasal bridge; anteverted nostrils; short hands with broad thin fingers and elongated thumbs; a mild talipes calcaneovalgus… CONTINUE READING
5 Citations
8 References
Similar Papers


Publications referenced by this paper.
Showing 1-8 of 8 references

Grant satellites or translocation

  • M. G. Wilson, A. Jujimoto, N. W. Shinno, J. W. Tourner
  • Cytogenet . Cell Genet .
  • 1978

: A simple method for Rbanding of human chromosomes , showing a pHdependent connection between R and G bands

  • J. Sehesled
  • Hum . Genet .
  • 1974

A simple technique for demonstrating centromeric heterochromatin

  • A T.
  • R and G bands. Hum. Genet
  • 1974

Similar Papers

Loading similar papers…