What gene causes Klinefelter syndrome?

What gene causes 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.

What is genotype XXY?

Klinefelter syndrome (sometimes called Klinefelter’s, KS or XXY) is where boys and men are born with an extra X chromosome. Chromosomes are packages of genes found in every cell in the body. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby.

What is the genotype of XYY syndrome?

Most people have 46 chromosomes in each cell. In males, this typically includes one X chromosome and one Y chromosome (XY). XYY syndrome is a genetic condition that occurs when a male has an extra copy of the Y chromosome in each of their cells (XYY). Sometimes, this mutation is only present in some cells.

What phenotype is associated with Klinefelter syndrome?

Klinefelter syndrome (KS) (47,XXY) occurs in ∼1 in 650 males, and is associated with a physical phenotype that can include tall stature, hypogonadism, and fertility problems.

Is Klinefelter syndrome dominant or recessive?

FGF8) account for only 25%-35% of cases. Female individuals with an autosomal dominant or recessive form can also be affected, whereas Klinefelter syndrome occurs only in male patients.

Is XXY chromosome possible?

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.

How do you get XXY chromosomes?

What Causes Klinefelter Syndrome? You get the extra X chromosome by chance. Either the egg or the sperm that came together to create you had an extra X chromosome. Older women have a slightly higher chance of having a boy with XXY syndrome, but the chance is small.

What phenotype is associated with the genotype XXY?

Klinefelter syndrome (KS) is a frequent male sex-chromo- somal trisomy (47,XXY) of heterogeneous phenotype (in- fertility, hypogonadism, gynecomastia, disturbed bone metabolism, diabetes, cognitive deficits and, vascular and cardiac problems) and variable severity.

What is XY chromosome disorder?

XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall.

Is Klinefelter syndrome autosomal or Sexlinked?

Klinefelter syndrome with fabry disease–a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.

What is the life expectancy of someone with Klinefelter syndrome?

According to research, Klinefelter syndrome can shorten your life expectancy up to two years. However, you can still live a long, full life with this condition. The earlier you get treatment, the better your outlook will be.

What are the chances of getting Klinefelter syndrome?

Klinefelter syndrome affects 1 in 500 to 1,000 males. Variants of this condition are much rarer, occurring in 1 in 50,000 or fewer male births.

What is the prognosis for Klinefelter syndrome?

However, the prognosis of Klinefelter syndrome is good, provided the patient has careful and consistent monitoring of his health, as well as early treatment of any problems that occur. Many men with Klinefelter syndrome lead full and active lives, and can expect a normal lifespan.

What is the genetic basis of Klinefelter’s syndrome?

If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have one or more extra X chromosomes in each of the body’s cells. Most often, Klinefelter syndrome is caused by a single extra copy of the X chromosome, resulting in a total of 47 chromosomes per cell.