How is fragile X syndrome caused?

Fragile X syndrome is caused by a change to a gene on the X-chromosome called the FMR1 gene. This gene produces a protein that helps the brain to function normally. If this gene is changed or altered in any way, it cannot produce its normal protein, which can result in Fragile X syndrome.

What are the specific symptoms of fragile X syndrome?

What Are the Symptoms of Fragile X?

• Trouble learning skills like sitting, crawling, or walking.
• Problems with language and speech.
• Hand-flapping and not making eye contact.
• Temper tantrums.
• Poor impulse control.
• Anxiety.
• Extreme sensitivity to light or sound.
• Hyperactivity and trouble paying attention.

Is Fragile X similar to Down syndrome?

Fragile X syndrome arises from a single gene mutation that prevents the synthesis of a protein required for neural development (Fragile X mental retardation protein). The presence of all or a part of a third copy of chromosome 21 in cells causes Down syndrome.

Is Fragile X Syndrome a learning disability?

Fragile X and learning disability Fragile X is the most common inherited cause of learning disability. Of the people who have Fragile X, nearly all boys will have a learning disability but only a third of girls.

Can you have an XXY chromosome?

Klinefelter syndrome is a genetic condition in which a boy is born with an extra X chromosome. Instead of the typical XY chromosomes in men, they have XXY, so this condition is sometimes called XXY syndrome. Men with Klinefelter usually don’t know they have it until they run into problems trying to have a child.

Is Down syndrome genetic?

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.

Does Adele have Klinefelter syndrome?

Adele Markham has a rare genetic disorder called Klinefelters, which means she is not male or female, but both – known as intersex. Born as Matthew, her parents were delighted to be told they had a son, after having two older girls.

How do I know if I have fragile X syndrome?

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. Intellectual disability is the hallmark of this condition and, in females, this may be the only sign of the problem.

What are the signs and symptoms of Fragile X syndrome?

Fragile X Syndrome Symptoms. Though the severity of symptoms differs between men and women, some common fragile X syndrome symptoms are hyperactivity, impulsivity, anxiety, mood swings, tremors, and poor coordination.

How do you know if you have fragile X?

Genetic Testing. Many infants and children with fragile x have no distinct physical features. As teens characteristics can develop such as a longer face/jaw and larger, more noticeable ears. Most do not grow as tall as their peers, tend to have hyperflexible joints. Many people with fragile x have impaired intellectual functioning.

What are the main causes of Fragile X syndrome?

Fragile X syndrome is a genetic disorder caused by a change to one of the genes on the X chromosome . It is the most common inherited cause of intellectual disability and the most common single gene cause of autism.