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  2. Trisomy X - Wikipedia

    en.wikipedia.org/wiki/Trisomy_X

    Unlike trisomy X, approximately half of women with tetrasomy X have no or incomplete pubertal development. Although in most cases tetrasomy X is significantly more severe than trisomy X, some cases of tetrasomy X are mild, and some cases of trisomy X severe. Like trisomy X, the full phenotypic range of tetrasomy X is unknown due to underdiagnosis.

  3. Tetrasomy X - Wikipedia

    en.wikipedia.org/wiki/Tetrasomy_X

    Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...

  4. Tetrasomy - Wikipedia

    en.wikipedia.org/wiki/Tetrasomy

    Full. Full tetrasomy of an individual occurs due to non-disjunction when the cells are dividing (meiosis I or II) to form egg and sperm cells (gametogenesis). This can result in extra chromosomes in a sperm or egg cell. After fertilization, the resulting fetus has 48 chromosomes instead of the typical 46.

  5. Trisomy - Wikipedia

    en.wikipedia.org/wiki/Trisomy

    Karyotype of a human with Trisomy 21 (Down syndrome). Trisomies can occur with any chromosome, but often result in miscarriage rather than live birth.For example, Trisomy 16 is most common in human pregnancies, occurring in more than 1%, but the only surviving embryos are those having some normal cells in addition to the trisomic cells (mosaic trisomy 16). [3]

  6. Polysomy - Wikipedia

    en.wikipedia.org/wiki/Polysomy

    Tetrasomy and hexasomy 8 are rare compared to trisomy 8, which is the most common karyotypic finding in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). [24] AML, MDS, or myeloproliferative disorder (MPD) with a high incidence of secondary diseases and a six-month survival rate are associated with a polysomy 8 syndrome. [25]

  7. Pallister–Killian syndrome - Wikipedia

    en.wikipedia.org/wiki/Pallister–Killian_syndrome

    The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of ...

  8. X chromosome - Wikipedia

    en.wikipedia.org/wiki/X_chromosome

    The X chromosome is one of the two sex chromosomes in many organisms, including mammals, and is found in both males and females. It is a part of the XY sex-determination system and XO sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome ...

  9. Aneuploidy - Wikipedia

    en.wikipedia.org/wiki/Aneuploidy

    Aneuploidy is the presence of an abnormal number of chromosomes in a cell, for example a human cell having 45 or 47 chromosomes instead of the usual 46. [1][2] It does not include a difference of one or more complete sets of chromosomes. A cell with any number of complete chromosome sets is called a euploid cell. [1]