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In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome aneuploidies to be discovered, two years after the discoveries of 47,XXY, [27] 45,X [28] and 47,XXX [29] in 1959. Even the much less common 48,XXYY [30] had been discovered in 1960, a year before 47,XYY.
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
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.
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.
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; 47, XXX, also known as trisomy X or triple X syndrome; 47, XXY, also known as Klinefelter syndrome; 47, XYY, also known as Jacobs syndrome; 48, XXXX, also known as tetrasomy X; 48, XXXY ...
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [1]
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. It is a fairly rare chromosomal disorder at birth, with an estimated incidence rate of about 1 in 15,000 live births. [2]
XXXYY syndrome, also known as 49,XXXYY, is a chromosomal disorder in which a male has three copies of the X chromosome and two copies of the Y chromosome.XXXYY syndrome is exceptionally rare, with only eight recorded cases.