Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

Clicks: 345
ID: 8000
2019
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Emerging

Ranked #5 of 26 articles by views in case reports in obstetrics and gynecology

Most read Least read

Bar heights use a square-root scale.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
Abstract
Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism. Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.
Reference Key
melody2019mosaiccase Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Rasouli, Melody;McDaniel, Katherine;Awadalla, Michael;Chung, Karine;Rasouli, Melody;McDaniel, Katherine;Awadalla, Michael;Chung, Karine;
Journal case reports in obstetrics and gynecology
Year 2019
DOI
10.1155/2019/3719178
URL
https://www.hindawi.com/journals/criog/2019/3719178/abs/
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.