Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

Anne Marie Jelsig; Karen Brøndum-Nielsen; Asuram Zeynep Tümer

Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

Anne Marie Jelsig
, Karen Brøndum-Nielsen
, Asuram Zeynep Tümer

Afdeling for Genetik

Abstract

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.

Bidragets oversatte titel	X-chromosome loss can be an age-related phenomenon in women
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	180
Udgave nummer	23
Sider (fra-til)	V10170731
ISSN	0041-5782
Status	Udgivet - 4 jun. 2018

Citationsformater

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abstract = "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.",

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TY - JOUR

T1 - Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

AU - Jelsig, Anne Marie

AU - Brøndum-Nielsen, Karen

AU - Tümer, Asuram Zeynep

PY - 2018/6/4

Y1 - 2018/6/4

N2 - 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.

AB - 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.

M3 - Tidsskriftartikel

C2 - 29809128

SN - 0041-5782

VL - 180

SP - V10170731

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 23

ER -

Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

Abstract

Fingeraftryk

Citationsformater