A female with ۴۶, X,i(Y)(q۱۰)(Case Report)

IntroductionDifferences 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 ۴۶, X,i(Y)(q۱۰), is a rare chromosomal abnormality . This case report aims to detail the clinical presentation, genetic analysis, and management of a female patient with the ۴۶, X,i(Y)(q۱۰) karyotype.Case ReportA ۱۶-years-old girl with developmental disorders in childhood and suspected Turner syndrome was referred to Imam Khomeini Hospital in Tehran.ResultsThe results of the karyotype was as follows: ۴۶,X,i(Y)(q۱۰). The results of FISH test is XY but this test unable to show isochromosomes.DiscussionThe karyotype ۴۶,X,i(Y)(q۱۰) indicates the presence of a structurally abnormal Y chromosome in a female, which is a rare occurrence. Females with ۴۶,X,i(Y)(q۱۰) may present with a range of phenotypes, from typical female characteristics to those resembling Turner syndrome, depending on the extent of Y chromosome material.

کلیدواژه ها:

Isochromosome ، Sex Development ، Turner syndrome ، Differences in sex development (DSD)