A 47,X,i(Xq),Y KARYOTYPE DETECTED KLINEFELTER SYNDROME PATIENT

Abstract

Klinefelter syndrome, the first described chromosomal abnormality, is characterized with hypergonadotrophic hypogonadism and eunochoid body habitus. Its prevelance is one in 500-1000 live birth. Patients usually diagnosed while they are evaluated for infertility. The general abnormalities of Klinefelter syndrome are eunochoid body habitus, gynecomastia, decreased facial and pubic hair, personality and behaviourial problems. While 47, XXY chromosome structure is detected in 80% of the patients, it is thought that 20% of the patients have another numerical chromosomal abnormality. There is no clear data about the prevalence of structural chromosomal abnormalities, particularly isochromosome Xq, but its prevalence among Klinefelter syndrome patients is estimated to be 39%. In this case report we present clinical and laboratory findings of a Klinefelter syndrome patient who came to our clinics because of infertility and found to have 47,X,i(Xq),Y karyotype in conventional cytogenetic analyse.