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Clin Genet. 1997 Feb;51(2):122-3.

Möbius-like syndrome associated with a 1;2 chromosome translocation.

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  • 1Department of Pediatrics, Yamaguchi University School of Medicine, Japan.

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.

PMID:
9112001
[PubMed - indexed for MEDLINE]
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