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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).
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]
Sex differences in human physiology are distinctions of physiological characteristics associated with either male or female humans. These differences are caused by the effects of the different sex chromosome complement in males and females, and differential exposure to gonadal sex hormones during development.
Klinefelter syndrome (47,XXY and XXY syndrome) – a condition that describes a male born with at least one extra X chromosome. Though the most common variation is 47,XXY, a man may also be 48,XXXY or 49,XXXXY. It is a common occurrence, affecting 1 in 500 to 1,000 men. [44]
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.
In a systematic review including two prospective studies of 47,XYY boys identified by newborn screening programs and one retrospective study of 47,XYY men identified by screening men over 184 cm (6 ft 1 ⁄ 2 in) in height, forty-two 47,XYY boys and men had an average 99.5 verbal IQ and 106.4 performance IQ. [16] [18] [19] [20]
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.
Offspring have two sex chromosomes: an offspring with two X chromosomes (XX) will develop female characteristics, and an offspring with an X and a Y chromosome (XY) will develop male characteristics, except in various exceptions such as individuals with Swyer syndrome, that have XY chromosomes and a female phenotype, and de la Chapelle Syndrome ...