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  2. Turner syndrome - Wikipedia

    en.wikipedia.org/wiki/Turner_syndrome

    Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [2][6][7] Most people have two sex ...

  3. 46,XX/46,XY - Wikipedia

    en.wikipedia.org/wiki/46,XX/46,XY

    46,XX/46,XY is an example of tetragametic chimerism because it requires four gametes – two sperm and two ova. 46,XX/46,XY is most commonly explained during in conception combination of two fertilized eggs zygotes. Two ova from the mother are fertilized by two sperm from the father. One sperm contains an X chromosome; the other contains a Y ...

  4. Klinefelter syndrome - Wikipedia

    en.wikipedia.org/wiki/Klinefelter_syndrome

    Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a phenotypic male at birth has an extra X chromosome. [ 10 ] These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal ...

  5. 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 ...

  6. XX male syndrome - Wikipedia

    en.wikipedia.org/wiki/XX_male_syndrome

    De la Chapelle syndrome [ 1 ] Human karyotype 46 XX. Specialty. Medical genetics. XX male syndrome, also known as de la Chapelle syndrome, is a rare 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 ...

  7. Chromosome - Wikipedia

    en.wikipedia.org/wiki/Chromosome

    This is an accepted version of this page This is the latest accepted revision, reviewed on 15 October 2024. DNA molecule containing genetic material of a cell This article is about the DNA molecule. For the genetic algorithm, see Chromosome (genetic algorithm). Chromosome (10 7 - 10 10 bp) DNA Gene (10 3 - 10 6 bp) Function A chromosome and its packaged long strand of DNA unraveled. The DNA's ...

  8. 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.

  9. Sex chromosome anomalies - Wikipedia

    en.wikipedia.org/wiki/Sex_chromosome_anomalies

    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 ...