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Readers ask: Why are males more affected by fragile X syndrome?

Symptoms of Fragile-X syndrome are more severe in males compared with females. Because females have two X chromosomes, an inherited damaged FMR1 gene can be compensated for by an inherited healthy FMR1 gene. Unlike females, males only have one X chromosome, so an inherited damaged copy is their only copy.

Does Fragile X occur more in males?

Fragile X syndrome occurs more often in males and results in more severe disorder in males. Mutations in FMR1 are unusual when compared to mutations found in other genes. Some individuals carry between 55 – 200 CGG repeats called a “premutation,” usually without having symptoms associated with fragile X syndrome.

Does fragile X affect males or females more?

FXS affects both males and females. Females often have milder symptoms than males. The exact number of people who have FXS is unknown, but a review of research studies estimated that about 1 in 7,000 males and about 1 in 11,000 females have been diagnosed with FXS.

Who is most affected by Fragile X syndrome?

Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups.

Why Is Fragile X less severe in females?

Because females have two “X” chromosomes and 2 copies of the FMR1 gene, if a girl inherits a full mutation, the other copy of the gene is usually working, so girls with a full mutation are still able to make FMR1 protein. This is why girls usually have fewer signs of fragile X than boys do.

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What is a transmitting male?

Fragile X “transmitting males” have customarily been defined as phenotypically normal hemizygotes, who show very few or no fragile sites, and who transmit the fragile X premutation to phenotypically normal daughters.

What causes Down syndrome?

About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.

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