https://homosaurus.org/v5/homoit0001020 homoit0001020 Mosaicism involving "sex" chromosomes Mozaïcisme met “geslachts”-chromosomen Könskromosommosaicism Mosaicism avseende könskromosomer 2019-05-14 xsd:date 2021-12-08 xsd:date https://homosaurus.org/v5/homoit0000669 Inter* Variationen People with mosaic chromosomes have different chromosome patterns in some cells of their body than in others. Mosaicism results from random differences in how cells divide while an embryo is growing, resulting in different numbers of chromosomes in different cells (such as 45X/46XX or 45X/46XY, which are both variants of Turner syndrome, or 46XY/47XXY or 46XX/47XXY, which are both variants of Klinefelter syndrome). If someone specifically has 46XX chromosomes in some cells and 46XY in others, their variation is probably chimerism instead of mosaicism. Having mosaic chromosomes can cause someone to develop variations in their genitals, gonads, or hormone function. For example, if they have at least one Y chromosome, they may have both ovarian and testicular tissue, or genital differences like hypospadias, or they may develop some secondary sex characteristics at puberty that are not expected for the sex they were assigned. People who have mosaicism without a Y chromosome (e.g., 45X/46XX, or 46XX/47XXX) may have streak gonads or ovaries that stop functioning at an earlier age than typical, which can affect development during puberty and fertility. Other people may not have any noticeable signs of their mosaicism at all. Aandoening waarbij personen twee of meer sets genetisch verschillende chromosomen hebben (45/46 of X- en Y-chromosoom) voor seksuele ontwikkeling en secundaire geslachtskenmerken (bijv. 45 XY/XXY of XX/XXY). Personer med mosaic-kromosomer har olika kromosomuppsättningar i vissa av kroppens celler. Mosaicism uppstår genom slumpmässiga förändringar i celldelningen under fosterutvecklingen, vilket leder till olika kromosomantal i olika celler (t.ex. 45X/46XX eller 45X/46XY – varianter av Turners syndrom, eller 46XY/47XXY och 46XX/47XXY – varianter av Klinefelters syndrom). Om någon har både 46XX och 46XY är det troligen fråga om kimerism snarare än mosaicism. Mosaicism kan orsaka variationer i könsorgan, könskörtlar eller hormonnivåer. Personer med minst en Y-kromosom kan utveckla både äggstocks- och testikelvävnad eller ha genitala variationer som hypospadi, samt pubertetsutveckling som inte stämmer överens med det tilldelade könet. Mosaicism utan Y-kromosom (t.ex. 45X/46XX eller 46XX/47XXX) kan innebära strimgonader eller tidigt förlorad äggstocksfunktion, vilket kan påverka pubertet och fertilitet. Andra kan sakna synliga tecken helt.