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

Journal Article · · American Journal of Human Genetics
OSTI ID:56731
; ; ;  [1];  [2];  [3]; ; ;  [4];  [5]
  1. Johns Hopkins School of Medicine, Baltimore, MD (United States)
  2. Washington Univ. School of Medicine, St. Louis, MO (United States)
  3. Genethon, Evry (France)
  4. Vanderbilt Univ. School of Medicine, Nashville, TN (United States)
  5. National Birth Defects Center, Brighton, MA (United States)
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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, {theta} = .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.
OSTI ID:
56731
Journal Information:
American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 6 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
DNA-CLONING
DOMINANT MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 7
PATIENTS
SKELETAL DISEASES
STATISTICAL MODELS