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Möbius-like syndrome associated with a 1;2 chromosome translocation
M Nishikawa1, T Ichiyama, T Hayashi
1Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Clinical Genetics
|February 1, 1997
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.