Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient

Amy Feldman Lewanda, Eric D. Green, Jean Weissenbach, Heather Jerald, Eugene Taylor, Marshall L. Summar, John A. Phillips, Melinda Cohen, Murray Feingold, Wendy Mouradian, Sterling K. Clarren, Ethylin Wang Jabs

Research output: Contribution to journalArticlepeer-review

Abstract

The locus for Saethre-Chotzen syndrome, a common autosomal dominant disorder of craniosynostosis and digital anomalies, was previously mapped to chromosome 7p between D7S513 and D7S516. We used linkage and haplotype analyses to narrow the disease locus to an 8-cM region between D7S664 and D7S507. The tightest linkage was to locus D7S664 (Z = 7.16, θ = .00). Chromosomes from a Saethre-Chotzen syndrome patient with t(2;7) (p23;p22) were used for in situ hybridization with YAC clones containing D7S664 and D7S507. The D7S664 locus was found to lie distal to the 7p22 breakpoint, and the D7S507 locus was deleted from the translocation chromosomes. These genetic and physical mapping data independently show that the disease locus resides in this interval.

Original languageEnglish (US)
Pages (from-to)1195-1201
Number of pages7
JournalAmerican Journal of Human Genetics
Volume55
Issue number6
StatePublished - Dec 1994

ASJC Scopus subject areas

  • Genetics

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