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

Am J Med Genet. 1993 Jun 15;46(5):534-6. doi: 10.1002/ajmg.1320460515.


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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Genetic Linkage
  • Humans
  • Infant
  • Male
  • Mandibulofacial Dysostosis / genetics*