A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
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Cleft of the soft palate (CSP) and the hard palate (CHP) are subtypes of cleft palate. Patients with either condition often have difficulty with speech and swallowing. Nonsyndromic, cleft palate isolated has been reported to be associated with several genes, but to our knowledge there have been no detailed genetic investigations of CSP. We performed a genome-wide linkage analysis using an SNP-based microarray platform and successively using microsatellite markers in a family where six members, across three successive generations, had CSP. A maximum LOD score of 2.408 was obtained at 2p24.2-24.1 and 2p21-p12, assuming autosomal dominant inheritance. Our results suggest that either of these regions is responsible for this type of CSP.
- Japan Society of Human Geneticsの論文
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