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Rigshospitalet - a part of Copenhagen University Hospital
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Tab af X-kromosomet kan være et aldersbetinget fænomen hos kvinder

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  1. Behandling af tymom og thymuskarcinom

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  2. Kønsmodificerende kirurgi i Danmark

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  3. Uafklaret dyspnø.

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  4. Organisering af Perifer Nervekirurgi i Danmark

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  5. Mysteriet om guldtanden i lungen.

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  1. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

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  2. Autism and developmental disability caused by KCNQ3 gain-of-function variants

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  3. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

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  4. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

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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.

Translated title of the contributionX-chromosome loss can be an age-related phenomenon in women
Original languageDanish
JournalUgeskrift for Laeger
Volume180
Issue number23
Pages (from-to)V10170731
ISSN0041-5782
Publication statusPublished - 4 Jun 2018

ID: 56084880