Chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. In human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .Our proband is an infant who had died 4 hours after birth due to a variety of abno...

Background/aims: To present the clinical, psychophysical, and electrophysiological characteristics of a family with dominantly inherited congenital stationary night blindness (CSNB). Methods: Five affected family members from three generations were ascertained. Four affected individuals underwent ophthalmic examination and electrodiagnostic investigations. Three affected individuals also underw...

BACKGROUND/AIMS To present the clinical, psychophysical, and electrophysiological characteristics of a family with dominantly inherited congenital stationary night blindness (CSNB). METHODS Five affected family members from three generations were ascertained. Four affected individuals underwent ophthalmic examination and electrodiagnostic investigations. Three affected individuals also underw...

Contents 1. Introduction: the welfare implications of pedigree dog breed standards 2. Current and future breeding trends 3. The prevalence of breed-related disease and abnormality 4. Breeds affected by hereditary hip and elbow dysplasia 4.1 The British Veterinary Association/Kennel Club hip and elbow dysplasia schemes 4.2 International studies of the prevalence of hip and elbow dysplasia 5. Bre...

Cardiovascular remodelling in the conditioned athlete is frequently associated with physiological ECG changes. Abnormalities, however, may be detected which represent expression of an underlying heart disease that puts the athlete at risk of arrhythmic cardiac arrest during sports. It is mandatory that ECG changes resulting from intensive physical training are distinguished from abnormalities w...

Genomic imprinting is a normal form of gene regulation that causes a subset of mammalian genes to be expressed from one of the two parental chromosomes. Some imprinted genes are expressed from the maternally inherited chromosomes and others from the paternally inherited chromosomes. This means that the maternal and paternal genomes are not functionally equivalent and is the reason why both a ma...

AIMS To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait. METHODS Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including visual acuity and field tes...

Three children with an unusual but clearly defined combination of clinical findings that appear to have been inherited in an autosomal recessive manner are described. All had developed laryngeal abnormalities, chronic skin ulceration, nail dystrophy, and conjunctival disease in infancy. In every case, dental enamel was hypoplastic and both skin and mucosal surfaces demonstrated increased suscep...

JD Cavenagh, BT Colvin Summary Although there are numerous risk factors for venous thromboembolic disease, the term 'thrombophilia' refers only to those familial or acquired disorders of the haemostatic system that result in an increased risk of thrombosis. The inherited thrombophilias include antithrombin III deficiency, resistance to activated protein C (factor V Leiden), protein C and protei...