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  2. Klinefelter syndrome - Wikipedia

    en.wikipedia.org/wiki/Klinefelter_syndrome

    This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in approximately one in 500 live male births. [ 4 ] [ 13 ] [ 36 ] In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation .

  3. Polysomy - Wikipedia

    en.wikipedia.org/wiki/Polysomy

    Trisomy 21 – Down syndrome, an example of a polysomy at chromosome 21. Polysomy is a condition found in many species, including fungi, plants, insects, and mammals, in which an organism has at least one more chromosome than normal, i.e., there may be three or more copies of the chromosome rather than the expected two copies. [1]

  4. XXYY syndrome - Wikipedia

    en.wikipedia.org/wiki/XXYY_syndrome

    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. Females typically have two X chromosomes ...

  5. Disorders of sex development - Wikipedia

    en.wikipedia.org/wiki/Disorders_of_sex_development

    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]

  6. Mosaic (genetics) - Wikipedia

    en.wikipedia.org/wiki/Mosaic_(genetics)

    An example of this is one of the milder forms of Klinefelter syndrome, called 46,XY/47,XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46/47 annotation indicates that the XY cells have the normal number of 46 total chromosomes, and the XXY cells have a total of 47 chromosomes.

  7. Barr body - Wikipedia

    en.wikipedia.org/wiki/Barr_body

    In humans with more than one X chromosome, the number of Barr bodies visible at interphase is always one fewer than the total number of X chromosomes. For example, people with Klinefelter syndrome (47, XXY) have a single Barr body, and people with a 47, XXX karyotype have two Barr bodies.

  8. Human genome - Wikipedia

    en.wikipedia.org/wiki/Human_genome

    The number of pseudogenes in the human genome is on the order of 13,000, [25] and in some chromosomes is nearly the same as the number of functional protein-coding genes. Gene duplication is a major mechanism through which new genetic material is generated during molecular evolution .

  9. Sex chromosome anomalies - Wikipedia

    en.wikipedia.org/wiki/Sex_chromosome_anomalies

    Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes). In humans this may refer to: 45, X, also known as Turner syndrome; 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis; 46, XX/XY