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.
Arn
P H
PH
Nemours Children's Clinic, Jacksonville, Florida.
Mankinen
C
C
Jabs
E W
EW
D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*