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Tab af X-kromosomet kan vaere et aldersbetinget faenomen hos kvinder
Engelsk titel: X-chromosome loss can be an age-related phenomenon in women Läs online Författare: Jelsig, Anne Marie ; Bröndum-Nielsen, Karen ; Tumer, Asuram Zeynep Språk: Dan Antal referenser: 14 Dokumenttyp: Översikt UI-nummer: 19040138

Tidskrift

Ugeskrift for Laeger 2019;181(2)148-51 ISSN 0041-5782 E-ISSN 1603-6824 KIBs bestånd av denna tidskrift Denna tidskrift är expertgranskad (Peer-Reviewed)

Sammanfattning

During chromosome analysis the finding of few cells with X-chromosome aneuploidy in a phenotypically normal woman is not unusual – so-called low-grade mosaicism for X aneuploidy (LLX-A). Such results can be difficult to interpret. In this review, LLX-A and its clinical implications are discussed, and based on the current literature it can be concluded, that LLX-A is an age-related phenomenon not related to reproductive issues such as recurrent abortions. This should be taken into account in any laboratory performing chromosome analysis.