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  2. XYY syndrome - Wikipedia

    en.wikipedia.org/wiki/XYY_syndrome

    The syndrome is diagnosed in an increasing number of children prenatally by amniocentesis and chorionic villus sampling [24] in order to obtain a chromosome karyotype, where the abnormality can be observed. It is estimated that only 15–20% of children with 47,XYY syndrome are ever diagnosed. Of these, approximately 30% are diagnosed prenatally.

  3. XYYY syndrome - Wikipedia

    en.wikipedia.org/wiki/XYYY_syndrome

    The presentation of XYYY syndrome is variable and at this time not entirely clear. As all known cases were diagnosed postnatally (after birth), and the similar XYY syndrome is known to have a milder phenotype in prenatally than postnatally diagnosed cases, it is suspected that many cases of XYYY syndrome may be mild or asymptomatic.

  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.

  5. 45,X/46,XY mosaicism - Wikipedia

    en.wikipedia.org/wiki/45,X/46,XY_mosaicism

    45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis, [1] is a mutation of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome.

  6. Trisomy X - Wikipedia

    en.wikipedia.org/wiki/Trisomy_X

    Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.

  7. 46,XX/46,XY - Wikipedia

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

    46,XX/46,XY chimeric or mosaic is associated with a wide spectrum of different physical presentations, with cases ranging from having a completely normal male or female phenotype [7] [8] [9] to some cases having ovotesticular syndrome. Due to this variation, genetic testing is the only way to reliably make a diagnosis.

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  9. Category:Chromosomal abnormalities - Wikipedia

    en.wikipedia.org/wiki/Category:Chromosomal...

    This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q90-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.