title: Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.
abstract: Saethre-Chotzen syndrome is a common autosomal dominant form of craniosynostosis, which results in the premature fusion of cranial sutures. Craniosynostosis is commonly associated with abnormalities of 7p; Vortkamp et al. (Nature 352, 539-540) demonstrated that the GLI3 gene in 7p13 was disrupted in, patients with Greig syndrome and, more recently, the linkage of genetic markers from 7p with the Saethre-Chotzen syndrome locus has been reported (2,3). Here we report the analysis by fluorescence in situ hybridization of four patients with Saethre-Chotzen syndrome associated with apparently balanced translocations involving band 7p21.2 and different reciprocal chromosomes. We show that in all four patients the breakpoints in 7p are situated within a 6 cM region flanked by the genetic markers D7S488 and D7S493. These results provide further evidence that the genetic locus for Saethre-Chotzen syndrome is located in distal 7p.
authors.affiliation: Unit of Molecular Genetics, Institute of Child Health, London, UK.
authors.forename: C S
authors.initials: CS
authors.lastname: Rose
authors.forename: A A
authors.initials: AA
authors.lastname: King
authors.forename: D
authors.initials: D
authors.lastname: Summers
authors.forename: R
authors.initials: R
authors.lastname: Palmer
authors.forename: S
authors.initials: S
authors.lastname: Yang
authors.forename: A O
authors.initials: AO
authors.lastname: Wilkie
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D005819:Genetic Markers