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XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals have two extra X chromosomes. [3] People in most cases have two sex chromosomes: an X and a Y or two X chromosomes.
Sex chromosome aneuploidies are caused by nondisjunction, a process through which gametes (eggs or sperm) with too many or too few chromosomes are produced. In nondisjunction, homologous chromosomes or sister chromatids fail to separate properly when producing gametes. [10] XXXYY syndrome, by its nature, requires multiple steps of nondisjunction.
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.
The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally.
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
XXXXY syndrome, also known as 49,XXXXY syndrome or Fraccaro syndrome, is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. [1] [2] [3] This syndrome is the result of maternal non-disjunction during both meiosis I and II. [4]
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]
Though a 48-chromosome complement involving the autosomes would be unsurvivable, 48,XYYY and other high-level sex chromosome aneuploidies such as XXXY syndrome and tetrasomy X—or indeed 49-chromosome disorders such as pentasomy X—are survivable with relatively mild phenotypes due to the paucity of genes vital to basic development on the sex ...