title: Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.
abstract: Crouzon syndrome (MIM 123500) is a common autosomal dominant form of craniosynostosis with shallow orbits, ocular proptosis, and maxillary hypoplasia. Jackson-Weiss syndrome (MIM 123150) is another autosomal dominant craniosynostosis with highly variable phenotypic expression. Unlike Crouzon syndrome, Jackson-Weiss syndrome is associated with foot anomalies. We performed two point linkage and haplotype analyses using 13 dinucleotide repeat markers on chromosome 10, spanning a genetic distance of 108 cM. The Crouzon syndrome locus (CFD1) maps to the region of chromosome 10q2, with the tightest linkage to locus D10S205 (Z = 3.09, theta = 0.00). the Jackson-Weiss syndrome locus in the large Amish pedigree in which the condition was originally described was also linked to the chromosome 10q23-q26 region between loci D10S190 and D10S186. The D10S209 locus was most strongly linked (Z = 11.29, theta = 0.00).
authors: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914.
authors: X
authors: X
authors: Li
authors: A F
authors: AF
authors: Lewanda
authors: F
authors: F
authors: Eluma
authors: H
authors: H
authors: Jerald
authors: H
authors: H
authors: Choi
authors: I
authors: I
authors: Alozie
authors: C
authors: C
authors: Proukakis
authors: C C
authors: CC
authors: Talbot
authors: C
authors: C
authors: Vander Kolk
authors: L M
authors: LM
authors: Bird
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005819:Genetic Markers; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D005819:Genetic Markers