PGD的临床流程中,从遗传病背景的鉴定,到优生遗传咨询,再到辅助生殖技术,最后到分子遗传学诊断的过程,需优生遗传学、生殖内分泌、胚胎学,以及分子遗传学等多个学科的支持、配合和参与.PGD的促排卵过程同常规IVF.以下两点值得注意.首先,PGD中女方携带的疾病可能会影响其卵巢储备,如脆性X染色体综合征有卵巢早衰的风险,20-30％发生卵巢反应不良.女方染色体相互易位和强直性肌营养不良等的卵巢反应性是
Preimplantation Genetic Screening (PGS) is used to identify numerical chromosome anomalies in couples having normal karyotypes but with fertility problems.Indications for using PGS are advanced matern
Introduction Sporadic inclusion body myositis (sIBM) is now known to be the most common inflammatory myopathy in adults in Western countries, though the incidence is very low in Asian countries.In Jap
Sporadic inclusion-body myositis (s-IBM) is a rare muscle disease in Asia population.The main clinical symptoms are characterized by a chronic progressive muscle weakness in the limbs after50 yeas old
Objective Duchenne muscular dystrophy(DMD) is an X-linked recessive genetic disorder with progressive skeletal muscle weakness.The aim of our study was to provide significant baseline information for
Backgroud The mutations in dysferlin gene are the main cause of Miyoshi myopathy characterized by symmetrical and selective involvement of distal limb muscles and limb-girdle muscular dystrophy type 2
Objectives To report the clinical and myopathological features in a case with limb-girdle muscular dystrophy 2C caused by a novel deletion mutation in the SGCG gene.Methods A 7-year-old girl developed
X-linked cardiomyopathy is a group of inherited disorders clinically characterised by cardiac muscle damage, of which the pathological comparison between the skeletal and the cardiac muscles need furt
Objective To identify the existence and distribution of C9ORF72 hexanucleotide (GGGGCC)repeat expansions as well as the mutation-related clinical phenotypes in the sporadic amyotrophic lateral scleros
Background and purpose Centronuclear myopathy (CNM) is a rare group of clinically and genetically heterogeneous congenital myopathies characterized by numerous muscle fibers with centrally placed nucl