Document Detail


Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.
MedLine Citation:
PMID:  7806229     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
X Li; A F Lewanda; F Eluma; H Jerald; H Choi; I Alozie; C Proukakis; C C Talbot; C Vander Kolk; L M Bird
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  22     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1994 Jul 
Date Detail:
Created Date:  1995-01-30     Completed Date:  1995-01-30     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  418-24     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-3914.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 10*
Craniofacial Dysostosis / genetics*
Craniosynostoses / genetics*
Ethnic Groups / genetics
Female
Foot Deformities, Congenital / genetics*
Genetic Markers
Haplotypes / genetics
Humans
Lod Score
Male
Pedigree
Phenotype
Syndrome
Grant Support
ID/Acronym/Agency:
5M01RR00722/RR/NCRR NIH HHS; DE10180/DE/NIDCR NIH HHS; HD24061/HD/NICHD NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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