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

P. H. Arn, C. Mankinen, E. W. Jabs

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)534-536
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume46
Issue number5
StatePublished - 1993
Externally publishedYes

Keywords

  • chromosome 3
  • chromosome 5
  • Treacher Collins syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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  • Cite this

    Arn, P. H., Mankinen, C., & Jabs, E. W. (1993). Mild mandibulofacial dysostosis in a child with a deletion of 3p. American Journal of Medical Genetics, 46(5), 534-536.