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Who discovered fragile x syndrome?
Fragile X syndrome was discovered by James Purdon Martin and Julia Bell. In 1943, they described an X-linked pedigree related to mental disability, although they didn’t consider the relative macroorchidism. The disease is also known as Martin-Bell syndrome, named after their discovery.
Fragile X syndrome was discovered by James Purdon Martin and Julia Bell. In 1943, they described an X-linked pedigree related to mental disability, although they didn’t consider the relative macroorchidism. The disease is also known as Martin-Bell syndrome, named after their discovery.
What is fragile x syndrome?
Fragile X syndrome is the most common form of inherited mental retardation in males and is also a significant cause of mental retardation in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial
and ethnic groups.
How is fragile x syndrome treated?
There is no specific treatment available for fragile X syndrome. Supportive therapy for children who have fragile X syndrome includes:
Special education and anticipatory management including avoidance of excessive stimulation to decrease behavioral problems.
Medication to manage behavioral issues, although no specific medication has been shown to be beneficial.
Early intervention, special education and vocational training.
Vision, hearing, connective tissue problems, and heart problems when present are treated in the usual manner.
Is fragile X syndrome inherited?
This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males experience more severe symptoms of the disorder than
females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
How is fragile X syndrome diagnosed?
There are very few outward signs of fragile X syndrome in babies, but one is a tendency to have a large head circumference. An experienced geneticist may note subtle differences in facial characteristics. Mental retardation is the
hallmark of this condition and, in females, this may be the only sign of the problem.
What are the symptoms of fragile X syndrome?
A boy who has the full FMR1 mutation has fragile X syndrome and will have moderate mental retardation. They have a particular facial appearance, characterized by a large head size, a long face, prominent forehead and chin and
protruding ears. In addition males who have fragile X syndrome have loose joints (joint laxity), and large testes (after puberty).
Source link(s)
http://ghr.nlm.nih.gov/condition/fragile-x-syndrome
Fragile X syndrome is the most common form of inherited mental retardation in males and is also a significant cause of mental retardation in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial
and ethnic groups.
How is fragile x syndrome treated?
There is no specific treatment available for fragile X syndrome. Supportive therapy for children who have fragile X syndrome includes:
Special education and anticipatory management including avoidance of excessive stimulation to decrease behavioral problems.
Medication to manage behavioral issues, although no specific medication has been shown to be beneficial.
Early intervention, special education and vocational training.
Vision, hearing, connective tissue problems, and heart problems when present are treated in the usual manner.
Is fragile X syndrome inherited?
This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males experience more severe symptoms of the disorder than
females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
How is fragile X syndrome diagnosed?
There are very few outward signs of fragile X syndrome in babies, but one is a tendency to have a large head circumference. An experienced geneticist may note subtle differences in facial characteristics. Mental retardation is the
hallmark of this condition and, in females, this may be the only sign of the problem.
What are the symptoms of fragile X syndrome?
A boy who has the full FMR1 mutation has fragile X syndrome and will have moderate mental retardation. They have a particular facial appearance, characterized by a large head size, a long face, prominent forehead and chin and
protruding ears. In addition males who have fragile X syndrome have loose joints (joint laxity), and large testes (after puberty).
Source link(s)
http://ghr.nlm.nih.gov/condition/fragile-x-syndrome