Is Klinefelter syndrome trisomy or monosomy?
While a trisomy can occur with any chromosome, the condition is rarely viable. The major chromosomal aneuploidies are trisomy 13, trisomy 18, Turner Syndrome (45, X), Klinefelter syndrome (47, XXY), 47XYY, and 47XXX.
What is the karyotype for Klinefelter syndrome?
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.
Is Klinefelter syndrome Nondisjunction?
The 47,XXY karyotype of Klinefelter syndrome spontaneously arises when paired X chromosomes fail to separate (nondisjunction in stage I or II of meiosis, during oogenesis or spermatogenesis). Maternal and paternal meiotic nondisjunction each account for approximately 50% of Klinefelter syndrome cases.
What type of mutation is 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 Klinefelter syndrome trisomy?
Klinefelter syndrome (KS), also known as 47,XXY, is a syndrome where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Often, symptoms are subtle and subjects do not realize they are affected….
Is Klinefelter a monosomy?
The Newly Emerging View of the Genome The exceptions to this are trisomy of chromosomes 13 (Patau syndrome), 18 (Edward syndrome), 21 (Down syndrome), X (XXY/Klinefelter syndrome or XXX), and Y (XYY); the only monosomy exception is the sex chromosomes (X0/Turner syndrome).
What chromosome is Klinefelter’s syndrome found on?
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 Klinefelter syndrome?
In Klinefelter syndrome, the person has an extra X chromosome which results in three sex chromosomes (2X chromosomes and a Y chromosome). This results in a genotype of 44 + XXY or 47 chromosomes.
How does nondisjunction cause Klinefelter syndrome?
However, because of nondisjunction, an egg cell or a sperm cell can also end up with an extra copy of the X chromosome. If an egg cell with an extra X chromosome (XX) is fertilized by a sperm cell with one Y chromosome, the resulting child will have Klinefelter syndrome.
How is Klinefelter syndrome caused?
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.
Is Klinefelter syndrome An example of trisomy?
Autosomal trisomy can be associated with birth defects, intellectual disability and shortened life expectancy. Trisomy of sex chromosomes can also occur and include: XXX (Triple X syndrome) XXY (Klinefelter syndrome)
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.
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 are the effects of Klinefelters syndrome?
Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone. The syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome vary,…
What are some treatments for Klinefelter syndrome?
Treatments for Klinefelter syndrome. There’s no cure for Klinefelter syndrome, but some of the problems associated with the condition can be treated if necessary. Possible treatments include: testosterone replacement therapy. speech and language therapy during childhood to help with speech development.