Abstract
Osteogenesis Imperfecta Type II (OI, lethal perinatal) has been presumed to be inherited as an autosomal recessive trait. In an attempt to test this hypothesis questionnaires were sent to all University Departments of Medical Genetics in Canada, requesting information about their ascertained cases of OI Type II. Twenty-three kindreds were ascertained with a total of 23 sibs of which 4 (17.4%) were affected. By the “singles” method of Davie (Ann. Hum. Gen. 42, 507, 1979) the estimated segregation frequency was 0.17±0.024. The sex ratios of affected and normal individuals did not differ significantly from expectation. There was no recognized parental consanguinity. The segregation ratio is significantly lower than 0.25 (P<0.01), suggesting the presence of either selective prenatal mortality or of genetic heterogeneity. These findings support the contention of Young and Harper (Lancet I, 432, 1980) that the empiric recurrence risk for 01 Type II is less than 25%.
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Tsipouras, P., Shields, E., Silberberg, D. et al. 767 GENETICS OF OSTEOGENESIS IMPERFECTA TYPE II. Pediatr Res 15 (Suppl 4), 570 (1981). https://doi.org/10.1203/00006450-198104001-00791
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DOI: https://doi.org/10.1203/00006450-198104001-00791