Nongenetic inheritance is a potentially important but poorly understood factor in population responses to rapid environmental change. Accumulating evidence indicates that nongenetic inheritance influences a diverse array of traits in all organisms and can allow for the transmission of environmentally induced phenotypic changes ('acquired traits'), as well as spontaneously arising and highly mut...

A boy investigated for neonatal jaundice was noted to have lipaemic serum and was subsequently shown to have type V hyperlipoproteinaemia. Dietary treatment was maintained for five years and he followed a typical clinical course. Circumstantial evidence suggested an autosomal recessive inheritance pattern.

Preterm delivery (PTD) is a complex trait with a significant familial component. However, no specific inheritance patterns have been established. The authors examined the contribution of PTDs in both the woman's family and her partner's family to her risk of PTD. The authors linked birth information from Danish national registers with pedigree information from the Danish Family Relations Databa...

Autoimmune diseases and primary immunodeficiencies share a common pathogenesis characterized by dysregulation of immunity. Although most autoimmune diseases show a polygenic inheritance pattern, it has been shown that monogenic defects of various immune system components could lead to autoimmunity as well. These findings have opened a new pathway for understanding the development of autoimmune ...

Three infant boys with bilateral absence of the kidneys and hypoplasia of the lungs are described. Two of the infants were brothers and the third was a first cousin. They were born to 2 sisters whose husbancs were unrelated to their wives and to each other. None of the parents had renal problems. The occurrence of this syndrome in 2 male sibs is suggestive of an autosomal recessive inheritance ...

We report a familial case of keratoconus with corneal granular dystrophy. The mother and first son have both keratoconus and corneal granular dystrophy and the second son has keratoconus alone. The keratoconus in this family is thought to be an autosomal dominant or an X-linked inheritance pattern. Granular dystrophy is an autosomal dominant inheritance. This familial case suggests that the gen...

We report a case of a 36-year-old woman with progressive generalized myoclonus that first became apparent 9 years ago. Her younger brother had similar problems. Examination of her eyes revealed cherry-red spots. Hexosaminidase A, β-galactosidase and neuraminidase activity were normal. Although the laboratory findings were negative, cherry-red spots, progressive myoclonus and autosomal recessive...

A family is described showing concordance for malignant melanoma and a cutaneous phenotype characterised by multiple large moles of variable size and colour (reddish-brown to bright red) with pigmentary leakage. Transmission of the cutaneous phenotype in the subject family, and in several others currently under investigation, shows an inheritance pattern consistent with a simple autosomal domin...

By and large, genetic studies on diabetics suggest that diabetes is about 50 per cent inherited, and other 50 per cent acquired or environmental. Because of the heterogeneous nature and multifactorial inheritance pattern of diabetes, accurate genetic counseling is not possible as yet. However, data to date suggest that it is unwise to advise prospective parents not to procreate, since the overa...

Familial transmission of cleft lip with or without cleft palate (CL(P] and isolated cleft palate (CP) was studied in two French samples of 458 CL(P) and 156 CP nuclear families, using the recently implemented unified model. In neither case could discrimination be achieved between polygenic inheritance and monogenic inheritance with a high proportion of sporadic cases. In this type of disorder w...