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XYYYY syndrome, also known as 49,XYYYY, is an exceptionally rare chromosomal disorder in which a male human has three additional copies of the Y chromosome. Only seven non- mosaic cases of the disorder have ever been recorded in the medical literature, as well as five mosaic cases, of which two had more 48,XYYY than 49,XYYYY cells. [ 1 ]
XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The syndrome is exceptionally rare, with only twelve recorded cases. The presentation of the syndrome is heterogeneous, but appears to be more severe than its counterpart XYY syndrome.
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 .
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.
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.
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 ...
45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.