Is Klinefelter syndrome autosomal 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.
What is Klinefelter syndrome karyotype 47 XXY?
Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a 47,XXY karyotype. The extra X chromosome typically affects physical, neurodevelopmental, behavioral, and neurocognitive functioning.
What happens if you have an XXY chromosome?
More to Know Males with XXY syndrome are born with cells that have an extra X chromosome, or XXY. This can cause delayed development and puberty, a smaller penis and testicles, infertility, and other symptoms. The condition that causes XXY syndrome is present at birth and can’t be changed.
What type of chromosomal abnormality is Klinefelter syndrome?
Klinefelter syndrome is caused by an additional X chromosome. This chromosome carries extra copies of genes, which interfere with the development of the testicles and mean they produce less testosterone (male sex hormone) than usual.
What is the life expectancy of a person with Klinefelter syndrome?
According to studies, Klinefelter syndrome (KS) can shorten life expectancy up to 2 years depending on whether complications associated with the condition develop. Early detection and treatment, including special educational interventions, may improve the outlook of this disease.
Is Klinefelter syndrome considered a disability?
Social Security Benefits If you or your dependent(s) are diagnosed with Klinefelter Syndrome and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
What is the survival rate of Klinefelter syndrome?
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.
What is the life expectancy of a person with Klinefelter Syndrome?
Is Klinefelter’s a disability?
If you or your dependent(s) are diagnosed with Klinefelter Syndrome and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
Who is most likely to get Klinefelter syndrome?
Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. This is written as XXY. Klinefelter syndrome occurs in about 1 out of 500 to 1,000 baby boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.
Is Klinefelter syndrome a form of autism?
In about 10-25% of cases, it is associated with known medical conditions. Population-based studies of autism have found that Klinefelter’s syndrome (KS), a common chromosome abnormality, is sometimes associated with autism.
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 condition causes Klinefelter syndrome?
The main cause of Klinefelter Syndrome is an error in genetics resulting in the child to be born with an extra sex chromosome. This is not an inherited condition. Normally, everyone has 46 chromosomes which include two sex chromosomes which determine an individual’s sex.
What causes Klinefelter’s syndrome?
Klinefelter syndrome is caused by a random genetic error that occurs during the formation of the egg or sperm, or after conception. Most commonly, Klinefelter syndrome occurs due to a process referred to as nondisjunction in the egg or the sperm during meiosis.