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Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas , [ 1 ] the person has underdeveloped gonads, fibrous tissue termed " streak gonads ", and if left untreated, will not experience puberty .
Klinefelter syndrome (47,XXY and XXY syndrome) – a condition that describes a male born with at least one extra X chromosome. Though the most common variation is 47,XXY, a man may also be 48,XXXY or 49,XXXXY. It is a common occurrence, affecting 1 in 500 to 1,000 men. [44]
Like Klinefelter syndrome, the presence of additional X chromosomes affects the male reproductive system, can cause physical abnormalities, and can affect cognitive development. When comparing 47,XXY and 48,XXXY, there is a greater risk for congenital malformations and more medical problems in those with 48,XXXY.
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [2] These may include being taller than average and an increased risk of learning disabilities. [1] [2] The person is generally otherwise normal, including typical rates of fertility. [1]
The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity. [ 8 ] There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. [ 1 ]
46, XX male syndrome, also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)