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Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
In 1959, five days after Jérôme Lejeune described the trisomy-21 [3] in Down syndrome, basing himself off Marthe Gautier's work, [4] Jacobs and John Strong described an additional X chromosome in male patients (the 47,XXY karyotype) [5] also known as Klinefelter syndrome, as Harry Klinefelter had already diagnosed the symptoms in 1942.
The Barr body test (1966) as well as the test based on PCR (1992) scanned for a Y-chromosome or an SRY-gene on the Y-chromosome. All female athletes with a Y-chromosome were expelled from competition from 1966 until 2011. [10] Dohle concludes that Dillema was an intersex individual who had ovotesticular DSD. She had an operation on her glands ...
It adds: “Some people with a very rare type of DSD have both ovarian and testicular tissue (sometimes one ovary and one testis). Their genitals may appear female or male or could look different ...
Aleksander Berezkin (Russian: Александр Берёзкин), Russian intersex immigrants activist with Klinefelter syndrome. Maddie Blaustein, American voice actor and comic creator known for her roles as Meowth in Pokémon and E-123 Omega in the Sonic the Hedgehog series, content creator for Second Life. [10]
DSDs caused by chromosomal variation generally do not present with genital ambiguity. This includes sex chromosome DSDs such as Klinefelter syndrome, Turner syndrome and 45,X or 46,XY gonadal dysgenesis. [14] Males with Klinefelter syndrome usually have a karyotype of 47,XXY as a result of having two or more X chromosomes. [15]
Klinefelter syndrome is an example of human polysomy X with the karyotype 47, XXY. X chromosome polysomies can be inherited from either a single maternal (49, X polysomies) or paternal (48, X polysomies) X chromosome. [18] Polysomy of sex chromosomes is caused by successive nondisjunctions in meiosis I and II. [6]
Harry Fitch Klinefelter Jr. (/ ˈ k l aɪ n f ɛ l t ər /; March 20, 1912 – February 20, 1990) was an American rheumatologist and endocrinologist. Klinefelter syndrome is named after him. Biography