Krishna Teja

FRAGILE X SYNDROME ___      TABLE OF CONTENT ●       Introduction ●       Genetics of Fragile X Syndrome ●       Clinical Presentation ●       Diagnosis and Screening ●       Treatment and Management ●       Impact on Individuals and Families ●       Current Research and Developments ●       Support Resources ●       Conclusion ●       References   INTRODUCTION Fragile X syndrome (FXS) is a genetic disorder resulting from a mutation in the FMR1 gene, leading to the silencing of the gene and the absence of the FMRP protein. This condition affects brain development and various body systems, causing physical, mental, and behavioral symptoms. It is the most common inherited cause of intellectual disability and a leading genetic cause of autism spectrum disorder. FXS was first identified in 1943, and the FMR1 gene and its molecular mechanism were discovered in 1991. FXS significantly impacts individuals, with symptoms ranging from learning difficulties and

SEX LINKED DISEASE :  HEMOPHILIA DIAGNOSIS AND TREATMENT ___ By G.KRISHNA TEJA TABLE OF CONTENT Introduction Understanding Hemophilia Symptoms and Complications Treatment Approaches Managing Hemophilia Complications and Long-Term Effects Preventive Measures Living with Hemophilia Conclusion INTRODUCTION Sex-linked diseases are a group of genetic disorders that are caused by mutations in genes located on the X chromosome. Humans have two sex chromosomes, X and Y. Females have two X chromosomes, while males have one X chromosome and one Y chromosome. This means that males have only one copy of each gene on the X chromosome, while females have two copies. Sex-linked diseases can be inherited in two ways: X-linked dominant and X-linked recessive. In X-linked dominant inheritance, only one copy of the altered gene is needed to cause the disease. This means that females who have one altered copy of the gene will be affected by the disease, even if they have a normal copy of the gene on their