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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.
By that time, three men with XXYY syndrome had been reported. [ 16 ] 49,XXXYY was one of the later sex chromosome aneuploidies to be discovered, being preceded by Turner , [ 17 ] Klinefelter , [ 18 ] and trisomy X [ 19 ] in 1959, XXYY syndrome in 1960, [ 20 ] and XYY [ 21 ] and tetrasomy X [ 22 ] in 1961.
This syndrome, evenly distributed in all ethnic groups, has a prevalence of approximately four subjects per every 10,000 (0.04%) males in the general population. [ 35 ] [ 64 ] [ 65 ] [ 66 ] However, it is estimated that only 25% of the individuals with Klinefelter syndrome are diagnosed throughout their lives. [ 50 ]
46, XX male syndrome, also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex 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] [5] [6]
XYYY syndrome, also known as 48,XYYY, is a chromosomal disorder in which a male has two extra copies of the Y chromosome. The syndrome is exceptionally rare, with only twelve recorded cases. The presentation of the syndrome is heterogeneous, but appears to be more severe than its counterpart XYY syndrome.
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XXYY syndrome; XYY syndrome; XYYY syndrome; XYYYY syndrome; Y. Y chromosome microdeletion This page was last edited on 3 January 2014, at 08:17 (UTC). Text is ...