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Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
Am J Med Genet. 1994 Aug 15; 52(2):174-7.AJ

Abstract

The Treacher Collins-Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at theta = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analyses [Dixon et al.: Am J Hum Genet 49:17-22, 1991, Am J Hum Genet 52:907-914, 1993; Jabs et al.: Genomics 11:193-198, 1991, Genomics 18:7-13, 1993] and provide further evidence of genetic homogeneity in this syndrome.

Authors+Show Affiliations

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital des Enfants Malades, Paris, France.No affiliation info availableNo affiliation info availableNo 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

7802004

Citation

Edery, P, et al. "Apparent Genetic Homogeneity of the Treacher Collins-Franceschetti Syndrome." American Journal of Medical Genetics, vol. 52, no. 2, 1994, pp. 174-7.
Edery P, Manach Y, Le Merrer M, et al. Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. Am J Med Genet. 1994;52(2):174-7.
Edery, P., Manach, Y., Le Merrer, M., Till, M., Vignal, A., Lyonnet, S., & Munnich, A. (1994). Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. American Journal of Medical Genetics, 52(2), 174-7.
Edery P, et al. Apparent Genetic Homogeneity of the Treacher Collins-Franceschetti Syndrome. Am J Med Genet. 1994 Aug 15;52(2):174-7. PubMed PMID: 7802004.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. AU - Edery,P, AU - Manach,Y, AU - Le Merrer,M, AU - Till,M, AU - Vignal,A, AU - Lyonnet,S, AU - Munnich,A, PY - 1994/8/15/pubmed PY - 1994/8/15/medline PY - 1994/8/15/entrez SP - 174 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 52 IS - 2 N2 - The Treacher Collins-Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at theta = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analyses [Dixon et al.: Am J Hum Genet 49:17-22, 1991, Am J Hum Genet 52:907-914, 1993; Jabs et al.: Genomics 11:193-198, 1991, Genomics 18:7-13, 1993] and provide further evidence of genetic homogeneity in this syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7802004/Apparent_genetic_homogeneity_of_the_Treacher_Collins_Franceschetti_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1994&volume=52&issue=2&spage=174 DB - PRIME DP - Unbound Medicine ER -