Anticipation describes an inheritance pattern within a pedigree with an increase in disease severity or decrease in age at onset or both in successive generations. The phenomenon of anticipation has recently been shown to be correlated with the expansion of trinucleotide repeat sequences in different disorders. We have studied differences of age at onset and disease severity between two generat...

Introduction Tumour Necrosis Factor (TNF) Receptor-Associated Periodic Syndrome (TRAPS) is an autoinflammatory disease with an autosomal dominant inheritance pattern. Structural mutations in the TNFRSF1A gen tend to have a penetrance higher than 90%, except for p.P46L and p.R92Q variants. The intensity of clinical manifestations in patients with these variants has been shown to decrease or even...

A gene causing Dyskeratosis Congenita (DC), a rare genetic disorder associated with bone marrow failure, has been mapped to chromosome Xq28, but autosomal inheritance of the disease has also been reported. We have investigated the pattern of X-inactivation in the peripheral blood of carriers of DC using the methylation-sensitive Hpa II site in the androgen receptor gene (HUMARA). In 5 different...

Under the background of digital design and propagation, this article is writing to explore application lotus pattern in logo Jiaoshan Buddhist Academy Zhenjiang realize inheritance innovation culture Academy, expand cultural connotation for Academy. By studying characteristics images patterns, combined with aesthetic psychological needs monks believers, hereby discusses feasibility applying pat...

OBJECTIVE Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULT...

With recent advances in molecular genetics, a new mechanism proposed for the inheritance of Bipolar Disorder is Genomic Imprinting or Parent of Origin Affect. In this study of 79 consecutive first episode manic patients, predominantly male, we failed to establish the phenomenon of imprinting. With other proposed non-Mendelian patterns of inheritance, it may be that bipolar disorder is genetical...