We report on a family having partial epilepsy with simple inheritance. The affected members commonly have aphasic episodes with secondary generalization; onset occurred either in adolescence or adulthood. Patients' response to medication has varied greatly. No neurological defects or decline in intelligence were found. The case represents another variety of rare familial partial epilepsy with n...

Mendelian traits are considered to be at the lower end of the complexity spectrum of heritable phenotypes. However, more than a century after the rediscovery of Mendel's law, the global landscape of monogenic variants, as well as their effects and inheritance patterns within natural populations, is still not well understood. Using the yeast Saccharomyces cerevisiae, we performed a species-wide ...

ruby eye-color mutant ( rb) in the house fly, Musca rEomestica L., was Tz@na l ly found by HIROYOSHI (1960) in the progeny of an “orange-eyed” stock collected in the field by L. D. ZINGRONE (Illinois State Natural History Survey, Urbana, Illinois, 1955). HIROYOSHI reported that the rb and ct (cut-wing tips) mutants were linked though the “results of all F, tests deviated significantly from expe...

EGULAR, heritable changes in gene function directed by an allele were first demonstrated by BRINK (1956a, b, c) at the R locus in maize. Changes of this type have been designated paramutation (BRINK 1958a), a convenient generic term emphasizing both the heritable nature of the changes and their originanation through heterozygous association of a sensitive (paramutable) allele with an inducing (...

We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-lin...

A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine...

This study ascertained 164 males with non-communicating hydrocephalus in live or stillborn patients in Victoria. Australia in 1962 to 1982, after excluding those cases secondary to brain malformations other than aqueduct stenosis. Ascertainment was considered near complete, especially for the period since 1974, but details of the aqueduct pathology were inadequate in half the cases. A total of ...