Briefly describe sex chromosome aneuploidy disorder in Launceston

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Introduction 48,XXYY syndrome which is one of the sex chromosome aneuploidies was described by Muldal et al. Therefore, it may seem counterintuitive that human females and males can function normally, despite carrying different numbers of the X chromosome.

Several disorders are known to be associated with abnormal numbers of sex chromosomes. Author Contributions: Concept - T.

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Briefly describe sex chromosome aneuploidy disorder in Launceston

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  • Trisomy X syndrome is a sex chromosome aneuploidy condition where affected females are born with an additional X chromosome. Trisomy X may also be referred to as 47,XXX, triplo X syndrome, and triple X syndrome. X&Y chromosome variations refer to conditions in which a child has an abnormal number of sex chromosomes, also known as X&Y chromosomes. Other words used to describe X&Y chromosome variations are sex chromosome anomaly, sex chromosome abnormality and sex chromosome aneuploidy.
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  • Sex chromosome aneuploidies (individuals with abnormal numbers of sex chromosomes) are found not infrequently in the general population and have characteristic deficits of cognitive ability: Individuals with an extra X chromosome (XXY or Klinefelter's syndrome, and XXX syndrome) have delays in the acquisition of language, as also do individuals with XYY syndrome. Aneuploidy often results in serious problems such as Turner syndrome, a monosomy in which females may contain all or part of an X chromosome. Monosomy for autosomes is usually lethal in humans and other animals. Klinefelter syndrome is a trisomy genetic disorder in males caused by the presence of one or more X chromosomes.
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  • Feb 25,  · Sex aneuploidy is a condition in which a person has more or less than two sex chromosomes. This can cause developmental issues, like those that Zack is displaying. Let's look closer at two examples. Abnormalities of the sex chromosomes. About 1 in male and 1 in female live births demonstrate some form of sex chromosome abnormality, although the symptoms of these conditions are generally much less severe than are those associated with autosomal abnormalities. Turner syndrome is a condition of females who, in the classic form, carry only a single X chromosome (45,X).
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  • Jun 01,  · 48,XXYY syndrome which is one of the sex chromosome aneuploidies was described by Muldal et al. in for the first time as a rare type of Klinefelter syndrome (47,XXY) because of presence of one more Y chromosome compared to Klinefelter syndrome. Currently, it is considered a separate clinical and genetic condition. Human genetic disorders can also be caused by aneuploidies involving sex chromosomes. These aneuploidies are better-tolerated than autosomal ones because human cells have the ability to shut down extra X chromosomes in a process called X-inactivation. You can learn more in the article on X chromosome inactivation.
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  • Sex chromosome, either of a pair of chromosomes that determine whether an individual is male or female. The sex chromosomes of human beings and other mammals are designated by scientists as X and Y. In humans the sex chromosomes consist of one pair of the total of 23 pairs of chromosomes. The other 22 pairs of chromosomes are called autosomes. In aneuploidy, an individual's cells have too many or too few copies of a chromosome (result of nondisjunction) Most cases of autosomal aneuploidy are lethal in embryos A normal gamete (n) fuses with an n+1 gamete.
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