Indication:

1.       Diagnostic Conformation

2.       Carrier Analysis

3.       Prenatal Diagnosis

Clinical Description:  Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and mental retardation. Usually, males are more severely affected by this disorder than females.

Males and females with fragile X syndrome may have anxiety and hyperactive behavior such as fidgeting, excessive physical movements, or impulsive actions. They may also have attention deficit disorder, which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of males with fragile X syndrome also have autism or autistic-like behavior that affects communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.

Many males with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty.