Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26

Journal Article · Fri Jul 15 04:00:00 EDT 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1403· OSTI ID:249995

Li, X; Lewanda, A F; Eluma, F ^[1]

---

1. Johns Hopkins Univ., Baltimore, MD (United States); and others

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. The authors 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). 29 refs., 2 figs., 2 tabs.

• OSTI ID: 249995
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 22; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOMES
POLYMERASE CHAIN REACTION
SKULL