AI Article Synopsis
- This text discusses a rare case of XX ovotesticular disorder of sex development in a 7-year-old Chinese individual, highlighting a specific gene duplication.
- The patient has a 46, XX karyotype and was found to have a 2.2-Mb duplication in the Xq27.1q27.2 region that is not present in their parents or sibling.
- The study proposes that this gene duplication may provide insights into the genetic mechanisms of XX ovotesticular disorder and suggests its evolutionary significance related to the sex-determining region Y.
Article Abstract
Very few reports are available on human XX ovotesticular disorder of sex development involving gene duplication. Here we aim to present a rare case of gene duplication in a person from the Chinese population who exhibits XX ovotesticular disorder of sex development. A 7-year-old Chinese individual from Fujian province in Southeast China was recruited. The patient presented 46, XX karyotype, absence of sex-determining region Y, and was diagnosed with XX ovotesticular disorder of sex development. Furthermore, SNP array analysis demonstrated that the patient had a 2.2-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139,499,778-141,777,782) involving the gene. Additionally, no duplication was observed in the parents or the sibling, who displayed none of the clinical features. We identified the first case of duplication in a Chinese individual who exhibits ovotesticular disorder of sex development. Our study strengthens the link between the duplication and XX ovotesticular disorder of sex development and indicates that is the evolutionary antecedent of sex-determining region Y.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8225946 | PMC |
| http://dx.doi.org/10.3389/fped.2021.682846 | DOI Listing |
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