| Literature DB >> 9112001 |
M Nishikawa1, T Ichiyama, T Hayashi, S Furukawa.
Abstract
We report here a rare case of Möbius-like syndrome associated with a 1;2 chromosome reciprocal translocation (46,XY,t(1;2)(p22.3;q21.1). The patient had facial diplegia, ptosis, anteverted nostrils, malformed and lowset ears, and slight developmental delay. Since a microdeletion could be present at the breakpoint in a reciprocal translocation, it is possible that the gene responsible for Möbius syndrome is located in this region of chromosome 1.Entities:
Mesh:
Year: 1997 PMID: 9112001 DOI: 10.1111/j.1399-0004.1997.tb02433.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438