Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome

Journal Article · Mon Aug 15 00:00:00 EDT 1994 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320520210· OSTI ID:62009

Edery, P; Manach, Y; Le Merrer, M; Till, M; Vignal, A; Lyonnet, S; Munnich, A

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 and provide further evidence of genetic homogeneity in this syndrome. 17 refs., 2 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 62009
• Journal Information: American Journal of Medical Genetics, Vol. 52, Issue 2; Other Information: PBD: 15 Aug 1994
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 5
DOMINANT MUTATIONS
GENETIC MAPPING
PATIENTS
HEREDITARY DISEASES
SENSE ORGANS DISEASES
MALFORMATIONS
GENES
DNA
GENETICS
STATISTICAL MODELS