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Mild mandibulofacial dysostosis in a child with a deletion of 3p.
Am J Med Genet. 1993 Jun 15; 46(5):534-6.AJ

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.

Authors+Show Affiliations

Nemours Children's Clinic, Jacksonville, Florida.No affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

8322816

Citation

Arn, P H., et al. "Mild Mandibulofacial Dysostosis in a Child With a Deletion of 3p." American Journal of Medical Genetics, vol. 46, no. 5, 1993, pp. 534-6.
Arn PH, Mankinen C, Jabs EW. Mild mandibulofacial dysostosis in a child with a deletion of 3p. Am J Med Genet. 1993;46(5):534-6.
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), 534-6.
Arn PH, Mankinen C, Jabs EW. Mild Mandibulofacial Dysostosis in a Child With a Deletion of 3p. Am J Med Genet. 1993 Jun 15;46(5):534-6. PubMed PMID: 8322816.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mild mandibulofacial dysostosis in a child with a deletion of 3p. AU - Arn,P H, AU - Mankinen,C, AU - Jabs,E W, PY - 1993/6/15/pubmed PY - 1993/6/15/medline PY - 1993/6/15/entrez SP - 534 EP - 6 JF - American journal of medical genetics JO - Am J Med Genet VL - 46 IS - 5 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8322816/Mild_mandibulofacial_dysostosis_in_a_child_with_a_deletion_of_3p_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=46&issue=5&spage=534 DB - PRIME DP - Unbound Medicine ER -