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- Publisher
- Wiley
- Copyright
- Copyright © 1993 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.1320460515
- pmid
- 8322816
- Publisher site
- See Article on Publisher Site
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 dysostosis, 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. © 1993 Wiley‐Liss, Inc.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Mar 15, 1994
Keywords: ; ;