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| APPARENT GENETIC HOMOGENEITY OF THE TREACHER COLLINS-FRANCESCHETTI SYNDROME |
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| Author(s): EDERY P, MANACH Y, LEMERRER M, TILL M, VIGNAL A, LYONNET S, MUNNICH A |
| Source: AMERICAN JOURNAL OF MEDICAL GENETICS Volume: 52 Issue: 2 Pages: 174-177 Published: AUG 15 1994 |
| Times Cited: 12 References: 17 |
| 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. (C) 1994 Wiley-Liss, Inc. |
| Document Type: Article |
| Language: English |
Addresses:
1. HOP NECKER ENFANTS MALAD, INSERM, U393, UNITE RECH HANDICAPS GENET ENFANT, F-75743 PARIS 15, FRANCE
2. HOP NECKER ENFANTS MALAD, SERV OTORHINOLARYNGOL, F-75743 PARIS, FRANCE
3. HOP DEBROUSSE, SERV PEDIAT & GENET, LYON, FRANCE
4. GENETHON, EVRY, FRANCE |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012 |
| Subject Category: Genetics & Heredity |
| IDS Number: PD722 |
| ISSN: 0148-7299 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |