​Pathology - Fragile X Syndrome

​Pathology -  Fragile X Syndrome 
caused by an increase in CGG repeats on the X chromosome's family mental retardation (FMRJ) gene.
affects both sexes (1:2000), while the clinical symptoms are typically milder in females.

A severe developmental delay accompanied by autistic traits, a long face with enormous ears and jaw, macroorchidism (giant testicles), a connective tissue disorder resulting in prolapsed mitral valve and hyperextensible joints, seizures, and strabismus.

genetic guidance.
Although there is no impact on lifespan, lifelong supervision is necessary.

Huntington disease, myotonic dystrophy, and fragile X syndrome all exhibit anticipation, a condition in which the frequency of repetitions rises with each generation and causes increasingly severe illness symptoms.