What does karyotype XXY mean?
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 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 clean filter syndrome?
Klinefelter syndrome is a genetic condition affecting males, and it often isn’t diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
What causes XXY 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 the Y chromosome?
The Y chromosome is one of the two sex chromosomes in humans (the other is the X chromosome). The sex chromosomes form one of the 23 pairs of human chromosomes in each cell. The Y chromosome spans more than 59 million building blocks of DNA (base pairs) and represents almost 2 percent of the total DNA in cells.
How long do people with Klinefelter live?
Prognosis for Klinefelter Syndrome In general, life expectancy is normal. Some research has found that life expectancy for men with the condition may be a year or two less than those without it because of other health problems linked to Klinefelter.
Can a man 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.
How common is XXYY aneuploidy?
XXY aneuploidy is the most common disorder of sex chromosomes in humans, with a prevalence of one in 500 males [3]. Other sex chromosomal aneuploidies are much less frequent with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births.
What is a sex chromosome aneuploidy?
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY.
What are the different sex aneuploidies?
We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood.
Do sex chromosome aneuploidies affect cognitive abilities?
Sex chromosome aneuploidies are associated with several NDDs. Mild to moderate decreases in general cognitive abilities have been reported in XO, XXX, XXY, XYY, and XXYY populations (Lee et al., 2012; Printzlau et al., 2017 ).