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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Mild mandibulofacial dysostosis in a child with a deletion of 3p.

We report on a patient with mild mandibulofacial dysostosis and a small interstitial deletion of 3p, 46,XY,del(3)(p23p24.12). Linkage of Treacher Collins syndrome, the most common of the mandibulofacial dysostoses, to the 5q31.3-->q33.3 region of chromosome 5 has been established. This is the fourth report of a patient with mandibulofacial dysostosis with a chromosome abnormality outside the 5q31.3 area. Mandibulofacial dysostosis is a heterogeneous entity, and evaluation and counseling of affected individuals should be undertaken with caution.[1]

References

  1. Mild mandibulofacial dysostosis in a child with a deletion of 3p. Arn, P.H., Mankinen, C., Jabs, E.W. Am. J. Med. Genet. (1993) [Pubmed]
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