The occurrence in a family of an isolated case of an autosomal dominant disorder with reduced penetrance presents a difficult problem in genetic counselling. It is shown that in such a situation the risk of recurrence in subsequent offspring is given by: (formula; see text) where P is the penetrance (0 less than P less than 1) and f' the relative fitness (0 less than f' less than 1) of affected...

Achondroplasia a common form of dwarfism, caused by a single recurrent point mutation in more than 97% of patients, is an autosomal dominant disorder with an incidence of approximately 1/7500. The name of this disease was called Chondrodystrophia foetalis before Parrot in 1878 reported the name of this disease as Achondroplasia, distinguished from other similar diseases. The present case report...

To be born into a family with familial pancreatic cancer, an inheritable, autosomal dominant disorder, has various implications for an individual's life--and none is fortunate. The prospects just turned even darker because of "anticipation", the phenomenon that successive generations are affected by an inheritable disorder at a progressively earlier age. An up to date study shows that "anticipa...

Polycystic kidney disease was first described in adult male and female long-haired, Persian-type cats in the late 1960’s. In 1996, the disorder was shown to be inherited as an autosomal dominant trait in a family of Persian cats. Both male and female cats were affected. In affected × unaffected crosses, 42% of offspring were affected and 58% were unaffected. In affected × affected crosses, 73% ...

introduction: dentin dysplasia is a rare autosomal dominant inheriting disturbance of dentin formation characterized by normal enamel formation, but atypical dentin with abnormal pulpal morphology. there are two major patterns: type i and type ii. amelogenesis imperfecta is an autosomal dominant. x-link inherent disease that is classified by clinical manifestation into hypoplastic, hypomature, ...

Sir, The review article by Dr. Badani and colleagues entitled “Autosomal dominant polycystic kidney disease and paina review of the disease from aetiology, evaluation, past surgical treatment options to current practice” is an interesting one. However, it is silent on the role of radiology. Radiology plays an important role in diagnosis of complications in autosomal dominant polycystic kidney d...

Abstract Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary vascular disorder inherited in an autosomal dominant manner. MRI plays crucial role the diagnosis follow-up of patients. Characteristic lesions include symmetric bilateral white matter periventricular hyperintensities, lacunar infarcts cerebral microbleeds. In our case r...