We describe a sib pair with craniofacial anomalies, micrognathia, Mobius sequence, generalised myopathy, relative macrocephaly, and developmental delay. They appear to have the Carey-Fineman-Ziter syndrome (MIM 254940), which has been reported in only four children, a sib pair and two sporadic cases. This report on an additional affected brother and sister pair supports autosomal inheritance as...

After 50 days of pond culture fewer pike fingerlings (20 to 33 p. 100) were recovered from the mixing of two full-sib families than from isolated families. Growth and survival were influenced by the family effect. Environmental parameters, such as depth and extent of the banks, may also affect growth and survival. Our results indicated that isolating full-sib families and using small, shallow p...

Two widely used affected-sib-pair scoring procedures (the Green and Woodrow [1977] procedure, and the method of forming all possible affected-sib-pairs) are compared with a new method for their relative efficiency in detecting the presence of an HLA-linked disease susceptibility gene. Their relative performance is investigated by extensive computer simulations over a large number of disease tra...

The long-term decline in the incidence of the neural tube malformations, anencephaly and spina bifida (ASB), ended in the mid-1950's in New York State. Since that time, the rate of these birth defects has remained between 1 and 1.5/1000 births. In this low incidence population, we tested the basic tenets which support a genetic aetiology. We found that the full sib recurrence rate (1.8%) was hi...

Parametric-linkage analysis applied to large pedigrees with many affected individuals has helped in the identification of highly penetrant genes; but, for diseases lacking a clear Mendelian inheritance pattern or caused by several genes of low to moderate penetrance, a more robust strategy is nonparametric analysis applied to small sets of affected relatives, such as affected sib pairs. Here we...

MOTIVATION Functional mapping that embeds the developmental mechanisms of complex traits shows great power to study the dynamic pattern of genetic effects triggered by individual quantitative trait loci (QTLs). A full-sib family, produced by crossing two heterozygous parents, is characteristic of uncertainties about cross-type at a locus and linkage phase between different loci. Integrating fun...

The FDA recommends using a suicidal ideation and behaviour (SIB) assessment that directly classifies the SIB data into eleven preferred categories noted in Appendix A of the 2012 guidance.1 The Columbia Suicide Severity Rating Scale (C-SSRS) (© 2014 Research Foundation for Mental Hygiene, Inc. all rights reserved) is one of the scales that directly classifies into these categories and the elect...