Turner syndrome or UlrichTurner syndrome (also known as "Gonadal dysgenesis"), 45,X, encompasses several conditions in human females, of which

monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent or has other abnormalities (unaffected humans have 46 chromosomes, of which two are sex chromosomes). In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or "Turner mosaicism".

Klinefelter syndrome or Klinefelter's syndrome, is the set of symptoms resulting from additional X genetic material in males. Also known as47,XXY or XXY , is a genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype, for a total of 47chromosomes rather than the 46 found in genetically normal humans. While females have an XX chromosomal makeup, and males an XY, individuals with Klinefelter syndrome have at least two X chromosomes and at least one Y chromosome. Because of the extra chromosome, individuals with the condition are usually referred to as "XXY males", or "47,XXY males". This chromosome constitution (karyotype) exists in roughly between 1:500 to 1:1000 live male births but many of these people may not show symptoms. If the physical traits associated with the syndrome become apparent, they normally appear after the onset of puberty. In humans, 47,XXY is the most common sex chromosome aneuploidy in males and the second most common condition caused by the presence of extra chromosomes. Other mammals also have the XXY syndrome, including mice. Principal effects include hypogonadism and reduced fertility. A variety of other physical and behavioural differences and problems are common, though severity varies and many XXY boys have few detectable symptoms.

Jacobs Syndrome (XYY syndrome) is an aneuploidy (abnormal number) of the sex chromosomes in which a human male receives an extra Y-chromosome, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYY karyotype, which occurs in 1 in 1,000 male births. Some medical geneticists question whether the term "syndrome" is appropriate for this condition because its clinical phenotype is normal and the vast majority (an estimated 97% in Britain) of 47,XYY males do not know their karyotype.

Down syndrome (DS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Down syndrome is the most common chromosome abnormality in humans. The CDC estimates that about one of every 691 babies born in the United States each year is born with Down syndrome. It is typically associated with physical growth delays, a particular set of facial characteristics and a severe degree of intellectual disability. The average full-scale IQ of young adults with Down syndrome is around 50 (70 and below is defined as the cut-off for intellectual disability), whereas healthy young adult controls have an average IQ of 100.

Edwards syndrome (also known as Trisomy 18 [T18]) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. This genetic condition almost always results from nondisjunction during meiosis. It is named after John Hilton Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy, after Down syndrome, that carries to term.

Edwards syndrome occurs in around one in 6,000 live births and around 80 percent of those affected are female. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.

Patau syndrome /pta/ is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13or trisomy D), or because each cell contains an extra partial copy of the chromosome (i.e., Robertsonian translocation) or because of mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). The extra genetic material from chromosome 13 disrupts the normal course of development, causing multiple and complex organ defects. Like allnondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.