Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse
- PMID: 2339698
- PMCID: PMC1683816
Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse
Abstract
We have demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37. In five families the peak lod score was 4.76 at a recombination fraction of .023. In the mouse the Splotch locus maps to near the homologous position. Splotch mice have white spotting and hearing defects, suggesting that Splotch may be the murine homologue of Waardenburg syndrome type I.
Comment in
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Mapping dysmorphic syndromes with the aid of the human/mouse homology map.Am J Hum Genet. 1990 Jun;46(6):1013-6. Am J Hum Genet. 1990. PMID: 2187342 Free PMC article. Review. No abstract available.
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