Genomic disorders involving microdeletions and microduplications have been reported in many individuals with neuropsychiatric disorders such as autism and mental retardation. The recurrent nature of these disorders is often explained by nonallelic homologous recombination (NAHR) mediated by large blocks of highly identical segmental duplications or low copy repeats (LCR). The rapidly growing li...

Background. Aromatase inhibitors (AIs) can significantly improve semen parameters in infertile men. In this study, we investigated the efficacy of AIs for azoospermia a Chinese population with AZFc microdeletion. Aims. Patients microdeletion who were treated analyzed retrospectively by collecting clinical data, including their hormone profile and treatment outcome. divided into those sperm afte...

BACKGROUND Danon disease is an X-linked dominant disorder characterized by the clinical triad of hypertrophic cardiomyopathy, skeletal myopathy, and variable mental retardation. Pathologically, autophagic vacuoles are noted in both skeletal and cardiac muscle. It exhibits an X-linked dominant mode of inheritance, and male carriers are severely affected, whereas female carriers develop milder an...