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About: 46,XX/46,XY

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46,XX/46,XY is an exceptionally rare chimeric genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. The cause of the condition lies in utero with the aggregation of two distinct blastocysts or zygotes (one of which expresses 46,XX and the other of which expresses 46,XY) into a single embryo, which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins. 46,XX/46,XY chimeras are the result of the merging of two non-identical twins. This is not to be confused with mosaicism or hybridism, neither of which are chimeric conditions. Since individuals with the condition have two cell lines of the opposite sex, it can

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  • 46,XX/46,XY is an exceptionally rare chimeric genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. The cause of the condition lies in utero with the aggregation of two distinct blastocysts or zygotes (one of which expresses 46,XX and the other of which expresses 46,XY) into a single embryo, which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins. 46,XX/46,XY chimeras are the result of the merging of two non-identical twins. This is not to be confused with mosaicism or hybridism, neither of which are chimeric conditions. Since individuals with the condition have two cell lines of the opposite sex, it can also be considered an intersex condition. In humans, sexual dimorphism is a consequence of the XY sex-determination system. In normal prenatal sex differentiation, the male and female embryo is anatomically identical until week 7 of the pregnancy, when the presence or the absence of the SRY gene on the Y chromosome causes the undetermined gonadal tissue to undergo differentiation and eventually become a pair of testes or ovaries respectively. The cells of the developing testes produce anti-müllerian hormone (AMH) and androgens, causing the reproductive tract and the genitals of the fetus to differentiate. As individuals with 46,XX/46,XY partially express the SRY gene, the normal process by which an embryo normally develops into a phenotypic male or phenotypic female may be significantly affected causing variation in the gonads, the reproductive tract and the genitals. Despite this, there have been cases of completely normal sex differentiation occurring in 46,XX/ 46,XY individuals reported in the medical literature. 46,XX/46,XY chimerism can be identified during pregnancy by prenatal screening or in early childhood through genetic testing and direct observation. The rate of incidence is difficult to determine as the majority of diagnoses go unreported in the literature. (en)
  • 46,XX/46,XY is een genetische stoornis waarbij er sprake is van een chimerisme. Het wordt gewoonlijk gezien bij intersekseaandoeningen en tweeslachtige genitaliën. Het is niet hetzelfde als mosaïcisme. Het ontstaat in de baarmoeder wanneer een XX-zygote en een XY-zygote een enkel embryo worden, terwijl het eigenlijk een tweeling had moeten worden. (nl)
  • 46,XX/46,XY (тетрагаметный химеризм) — разновидность химеризма, вызванная наличием двух различных клеточных популяций в организме. Химеризм возникает внутриутробно из комбинации зигот XX и XY (которые в противном случае превратились бы в близнецов) в одном зародыше. Химеризм не следует путать с мозаицизмом и гибридами. Тетрагаметный химеризм иногда приводит к таким интерсекс-состояниями, как гениталии промежуточного типа, но чаще фенотипически такие люди имеют нормальные мужские или женские гениталии. 46,XX/46,XY химеризм может быть обнаружен во время беременности с помощью пренатального скрининга или в раннем детстве с помощью генетического тестирования и непосредственно наблюдения. (ru)
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  • 46,XX/46,XY is een genetische stoornis waarbij er sprake is van een chimerisme. Het wordt gewoonlijk gezien bij intersekseaandoeningen en tweeslachtige genitaliën. Het is niet hetzelfde als mosaïcisme. Het ontstaat in de baarmoeder wanneer een XX-zygote en een XY-zygote een enkel embryo worden, terwijl het eigenlijk een tweeling had moeten worden. (nl)
  • 46,XX/46,XY is an exceptionally rare chimeric genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. The cause of the condition lies in utero with the aggregation of two distinct blastocysts or zygotes (one of which expresses 46,XX and the other of which expresses 46,XY) into a single embryo, which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins. 46,XX/46,XY chimeras are the result of the merging of two non-identical twins. This is not to be confused with mosaicism or hybridism, neither of which are chimeric conditions. Since individuals with the condition have two cell lines of the opposite sex, it can (en)
  • 46,XX/46,XY (тетрагаметный химеризм) — разновидность химеризма, вызванная наличием двух различных клеточных популяций в организме. Химеризм возникает внутриутробно из комбинации зигот XX и XY (которые в противном случае превратились бы в близнецов) в одном зародыше. Химеризм не следует путать с мозаицизмом и гибридами. Тетрагаметный химеризм иногда приводит к таким интерсекс-состояниями, как гениталии промежуточного типа, но чаще фенотипически такие люди имеют нормальные мужские или женские гениталии. (ru)
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  • 46,XX/46,XY (en)
  • 46,XX/46,XY (nl)
  • 46,XX/46,XY (ru)
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