Document Type : Case Report
Authors
1
Medical Genetic Ward, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran
2
Cancer Biology Research center, Cancer Institute, Imam Khomeini Hospital Complex – Tehran University of Medical Sciences, Tehran, Iran.
3
Department of Obstetrics and Gynecology, Faculty of Medicine, Vali-Asr Reproductive Health Research Center, Tehran University of Medical Sciences, Tehran, Iran
4
Vali-E-Asr Reproductive Health Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
5
Chairman of Medical Genetic Ward, IKHC Hospital Complex, Tehran University, Faculty of Medicine, Tehran, Iran
Abstract
Introduction
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.
Case Report
A 16-years-old girl with developmental disorders in childhood and suspected Turner syndrome was referred to Imam Khomeini Hospital in Tehran.
Results
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.
Discussion
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.
Keywords
