title: The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.
abstract: We previously reported a patient with an apparently balanced t(6;7) translocation and craniosynostosis. We now demonstrate, by fluorescence in situ hybridization, that the yeast artificial chromosome clone 933-e-1 from the Centre d'Etude du Polymorphisme Humain library harbouring the D7S503 locus spans the breakpoint on distal 7p. Recent reports have defined a candidate region for a Saethre-Chotzen craniosynostosis locus between the loci D7S513 and D7S516, a region that includes the D7S503 locus. Since the translocation carrier shows only some of the symptoms characteristic for the Saethre-Chotzen syndrome, it remains unresolved whether the gene disrupted by the translocation event is the only one causing craniosynostosis in this chromosomal region.
authors.affiliation: Medizinisches Zentrum für Humangenetik, Phillips-Universität, Marburg, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Tsuji
authors.forename: K
authors.initials: K
authors.lastname: Narahara
authors.forename: Y
authors.initials: Y
authors.lastname: Yokoyama
authors.forename: K H
authors.initials: KH
authors.lastname: Grzeschik
authors.forename: J
authors.initials: J
authors.lastname: Kunz
mesh_terms: D002675:Child, Preschool; D018244:Chromosomes, Artificial, Yeast; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D003398:Craniosynostoses / Q000235:genetics*; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D014178:Translocation, Genetic
chemical_list: D015342:DNA Probes