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- W8694186 abstract "Ninety extended families having one or more individuals affected with nonsyndromic cleft lip (CL) with or without cleft palate (CL/P) were ascertained in rural West Bengal, India. These families included 138 affected people, 64% of whom had CL alone and 66% of whom were male. Multiple-affected-member (multiplex) pedigrees were less common than single-affected-member (simplex) pedigrees, composing 34% of all extended pedigrees. There was no difference between multiplex and simplex pedigrees in the frequency of affected persons with CL alone, but multiplex pedigrees had a lower frequency of affected males (58%) than did simplex pedigrees (76%; P = .02). Complex segregation analysis using the POINTER computer program rejected both the hypothesis of no familial transmission (P < .0001) and the hypothesis that familiarity could be explained solely by a multifactorial/threshold model (P < .05). The hypothesis of major-locus inheritance alone could not be rejected. Among major-locus models examined, strictly recessive inheritance was rejected (P < .0001), but codominant and dominant models were not. Neither the addition of a multifactorial component nor the addition of a proportion of sporadic cases to the major-locus model improved the fit of the data. In conclusion, the results of complex segregation analysis were consistent with a dominant or codominant major-locus mode of inheritance of CL/P in these families." @default.
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- W8694186 date "1993-05-01" @default.
- W8694186 modified "2023-09-23" @default.
- W8694186 title "Nonsyndromic cleft lip with or without cleft palate in west Bengal, India: evidence for an autosomal major locus." @default.
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- W8694186 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1682042" @default.
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