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Treacher Collins syndrome: correlation between clinical and genetic linkage studies.
Clin Dysmorphol. 1994 Apr; 3(2):96-103.CD

Abstract

Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development in which there is considerable variability in the clinical manifestations. The TCOF1 locus has previously been mapped to chromosome 5q32-33.2 and markers flanking the disease locus identified. In the current investigation we have analysed eight short tandem repeat polymorphisms for linkage to TCOF1 in a large family with multiple affected individuals. Linkage analysis suggested that TCOF1 in this family was linked to markers in the region 5q32-33.2. We have used the results to make diagnostic predictions in certain mildly affected and apparently unaffected individuals.

Authors+Show Affiliations

Department of Cell and Structural Biology, University of Manchester, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8055143

Citation

Dixon, M J., et al. "Treacher Collins Syndrome: Correlation Between Clinical and Genetic Linkage Studies." Clinical Dysmorphology, vol. 3, no. 2, 1994, pp. 96-103.
Dixon MJ, Marres HA, Edwards SJ, et al. Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clin Dysmorphol. 1994;3(2):96-103.
Dixon, M. J., Marres, H. A., Edwards, S. J., Dixon, J., & Cremers, C. W. (1994). Treacher Collins syndrome: correlation between clinical and genetic linkage studies. Clinical Dysmorphology, 3(2), 96-103.
Dixon MJ, et al. Treacher Collins Syndrome: Correlation Between Clinical and Genetic Linkage Studies. Clin Dysmorphol. 1994;3(2):96-103. PubMed PMID: 8055143.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Treacher Collins syndrome: correlation between clinical and genetic linkage studies. AU - Dixon,M J, AU - Marres,H A, AU - Edwards,S J, AU - Dixon,J, AU - Cremers,C W, PY - 1994/4/1/pubmed PY - 1994/4/1/medline PY - 1994/4/1/entrez SP - 96 EP - 103 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 3 IS - 2 N2 - Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development in which there is considerable variability in the clinical manifestations. The TCOF1 locus has previously been mapped to chromosome 5q32-33.2 and markers flanking the disease locus identified. In the current investigation we have analysed eight short tandem repeat polymorphisms for linkage to TCOF1 in a large family with multiple affected individuals. Linkage analysis suggested that TCOF1 in this family was linked to markers in the region 5q32-33.2. We have used the results to make diagnostic predictions in certain mildly affected and apparently unaffected individuals. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8055143/Treacher_Collins_syndrome:_correlation_between_clinical_and_genetic_linkage_studies_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8055143.ui DB - PRIME DP - Unbound Medicine ER -