International Travel Medicine Center of Iran International Journal of Travel Medicine and Global Health 2322-1100 13 4 2025 12 01 A female with 46, X,i(Y)(q10)(Case Report) 264 268 230415 10.30491/ijtmgh.2025.522584.1480 EN Farnoosh Naseri Medical Genetic Ward, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran Reza Shirkoohi Cancer Biology Research center, Cancer Institute, Imam Khomeini Hospital Complex – Tehran University of Medical Sciences, Tehran, Iran. Setareh Akhavan Department of Obstetrics and Gynecology, Faculty of Medicine, Vali-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran Farideh Farzanfar Medical Genetic Ward, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran Masomeh Masomi Vali-E-Asr Reproductive Health Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran. Abbas Shakoori Farahani Chairman of Medical Genetic Ward, IKHC Hospital Complex, Tehran University, Faculty of Medicine, Tehran, Iran Journal Article 2025 05 14 Introduction<br>Differences in sex development (DSD) is a group of rare conditions involving genes, hormones and reproductive organs, including genitals. The presence of an isochromosome Y, specifically 46, X,i(Y)(q10), is a rare chromosomal abnormality . This case report aims to detail the clinical presentation, genetic analysis, and management of a female patient with the 46, X,i(Y)(q10) karyotype.<br>Case Report<br>A 16-years-old girl with developmental disorders in childhood and suspected Turner syndrome was referred to Imam Khomeini Hospital in Tehran.<br>Results<br>The results of the karyotype was as follows: 46,X,i(Y)(q10). The results of FISH test is XY but this test unable to show isochromosomes.<br>Discussion<br>The karyotype 46,X,i(Y)(q10) indicates the presence of a structurally abnormal Y chromosome in a female, which is a rare occurrence. Females with 46,X,i(Y)(q10) may present with a range of phenotypes, from typical female characteristics to those resembling Turner syndrome, depending on the extent of Y chromosome material. https://www.ijtmgh.com/article_230415_7392819b0ea9d09a3f12d3a9667ddabe.pdf