What causes mosaic Klinefelter syndrome?

What causes mosaic Klinefelter syndrome?

Klinefelter syndrome can be caused by: One extra copy of the X chromosome in each cell (XXY), the most common cause. An extra X chromosome in some of the cells (mosaic Klinefelter syndrome), with fewer symptoms. More than one extra copy of the X chromosome, which is rare and results in a severe form.

Is 47,XYY Klinefelter syndrome?

This study suggests that most males born with these chromosome patterns will go through life without being karyotyped, that the commonest indication for a 47,XYY male to be karyotyped will be developmental delay and/or behaviour problems, and that the commonest indication for a Klinefelter male to be karyotyped will be …

Why is Klinefelter so tall?

From early school age, boys with Klinefelter’s syndrome tend to be taller (increased leg length) because testosterone normally stops boys growing after puberty. This increase in height is maintained throughout life. Patients with Klinefelter’s syndrome may have reduced coordination compared with other boys.

Can females get Klinefelter’s syndrome?

Klinefelter syndrome affects males only; females cannot have it. Klinefelter syndrome results from a genetic abnormality in which males have an extra copy of the X chromosome.

Is Klinefelter syndrome fatal?

We found that Klinefelter syndrome was associated with a significant increase in mortality risk of 40% (hazard ratio, 1.40; 95% confidence interval, 1.13-1.74), corresponding to a significantly reduced median survival of 2.1 yr.

Can males with Klinefelter syndrome have babies?

Most boys with Klinefelter syndrome can have sex when they become men, usually with the help of testosterone treatment. But problems with their testicles prevent them from making enough normal sperm to father children. Most men with the condition are infertile and can’t father a child the usual way.

Can you build muscle with Klinefelter syndrome?

This can help someone with Klinefelter syndrome develop bigger muscles, a deeper voice, growth of the penis, and facial and body hair. It also can help improve bone density and reduce any breast growth.

How long is the average lifespan of a person with Klinefelter syndrome?

What Is the Life Expectancy for Klinefelter Syndrome? Life expectancy for patients with Klinefelter syndrome is reduced by five to six years. Patients diagnosed at a younger age seem to have a shorter lifespan, possibly because diagnosis at an earlier age is associated with a more severe phenotype.

CAN XXY get pregnant?

It is possible that an XXY male could get a woman pregnant naturally. Although sperm are found in more than 50% of men with KS3, low sperm production could make conception very difficult.

What are the phenotypic features of Klinefelter syndrome?

Klinefelter syndrome is characterized by hypogonadism (micro-orchidism [small testes], oligospermia/azoospermia), gynecomastia in late puberty, hyalinization and fibrosis of the seminiferous tubules, elevated urinary gonadotropin levels, and behavioral concerns. Images of phenotypic features seen in Klinefelter syndrome are shown below:

What is Klinefelter syndrome (KS)?

Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties.

What is Mosaic Klinefelter syndrome?

Mosaic Klinefelter syndrome results from a random event in cell division early in fetal development. As a result- there are two cell lines within the body. Individuals with mosaic Klinefelter may have less severe signs and symptoms.

Can fragile X and Klinefelter syndromes coexist in the same individual?

To date the concurrent presence of the fragile-X and the Klinefelter syndromes in the same individual has been found at least 8 times either in the course of screening for the fra (X) condition in mentally retarded males or among the relatives of fra (X) propositi.