Haploinsufficiency of the Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development

Clicks: 189
ID: 32797
2018
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 #52 of 85 articles by views in balkan medical journal

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
Ovotesticular disorder is characterized by the presence of testicular and ovarian tissues in the same individual. Single gene mutations in and can lead to ovotesticular disorder of sexual development.Herein, we report a 3-month-old phenotypically female baby in whom differentiated tissues of both Müllerian and Wolffian ducts were detected on pathological analysis of laparoscopic biopsy material. Chromosomal analysis observed 46,XY, der(9)t(3;9)(p25;p24) with deletion of 9p24.3p23 including the gene cluster and duplication of 3p26.3p24.3 on array comparative genomic hybridisation.In support of previous literature, we found that haploinsufficiency of the gene cluster leads to ovotesticular disorder of sexual development. In addition, we emphasize that array comparative genomic hybridisation is an important technique in the molecular diagnosis of ovotesticular disorder of sexual.
Reference Key
eser2018haploinsufficiencybalkan Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Eser, Metin;Ayaz, Akif;
Journal balkan medical journal
Year 2018
DOI
10.4274/balkanmedj.2017.0378
URL
http://balkanmedicaljournal.org/text.php?lang=en&id=1919
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.