| > Get Information > Disabilities and Diagnosis
|
| View Disabilities and Diagnosis
|
|
|
|
|
|
Fragile X syndrome
Martin-Bell Syndrome, FRAXA
Fragile X Syndrome is the leading cause of inherited intellectual disability, specific learning
disabilities and behaviour problems. This syndrome gets its name from a fragile site on the X
Chromosome. Under a microscope, the tip of the X chromosome looks as if is about to fall off.
Fragile X affects around one in 1000 males and one in 2500 females. However one in every 250
women carries the gene for Fragile X, which puts them at risk for having children with
intellectual disability.
Symptoms of Fragile X include autistic like behaviours, learning disabilities ranging from mild
difficulties with academic subjects to intellectual disability, and some physical characteristics
such as a long narrow face, prominent jaw, and large ears. As many people with no chromosome
anomalies have these features, Fragile X can be hard to detect without genetic testing.
Useful Links
A paediatric fact sheet that provides a brief overview of clinical features and management:
A national organisation website providing details on the condition, research and how to get involved with others and the organisation:
A national organisation website providing informative details on the condition, education, research, family support and further links:
A university website with information about the disorder, who to contact and further links:
New Zealand site you can browse to learn more about Fragile X Syndrome, including diagnosis, treatment options, testing, and educational strategies.
Support Groups
Person/Organisation:
Chris Hollis, Fragile X Trust (NZ)
Postal Address:
158 Oxford Tce, Epuni, Lower Hutt
Phone Number:
04 938 0552
Fax Number:
Email:
Support Resources
Published in 1992 by Schopmeyer, Betty B, Lowe, Fonda
Published in 1996 by Hagerman, Randy Jens, Cronister, Amy
Published in 1994 by Wilson, Philip, OConnor, Rebecca, Hagerman, Randi
Published in 1996 by Tranfaglia, Michael
Cancel
|
|
 TOP |