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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.
This syndrome, evenly distributed in all ethnic groups, has a prevalence of approximately four subjects per every 10,000 (0.04%) males in the general population. [ 35 ] [ 64 ] [ 65 ] [ 66 ] However, it is estimated that only 25% of the individuals with Klinefelter syndrome are diagnosed throughout their lives. [ 50 ]
Though a 48-chromosome complement involving the autosomes would be unsurvivable, 49,XXXYY and other high-level sex chromosome aneuploidies, such as tetrasomy X, pentasomy X, XYYY syndrome, XYYYY syndrome, and XXXXY syndrome, are survivable with relatively mild phenotypes due to the paucity of genes vital to basic development on the sex chromosomes.
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]
XXXY syndrome is therefore often referred to as 48,XXXY. There is a wide variety of symptoms associated with this syndrome, including cognitive and behavioral problems, taurodontism, and infertility. [2] [3] This syndrome is usually inherited via a new mutation in one of the parents' gametes, as those affected by it are usually infertile. It is ...
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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.)
If you have an inherited intolerance to alcohol, a mutated gene could be the culprit. An at-home DNA test could detect whether you have the mutation, but doctors say there could be some drawbacks.