Background Klinefelter syndrome(KS), affecting 1 in 500–1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before. Materials and Methods A 25‐year‐old male patient referred to our clinic with complaint of infertility. He is the son of a consanguineous couple who are first cousins and there was no family history of reproductive difficulty. In physical examination synophrys, prominent ear and small testicles noted. The patient's spermiogram showed azoospermia and scrotal USG revealed testicular atrophy. Results Karyotype analysis using G‐banding resulted as 47,X,i(X)(q10),Y, and STR analysis showed no deletion in AZF and SRY loci of interest. Conclusion Although several isochromosome Xq variant of KS cases can be found in literature, it is our duty to emphasise the importance of karyotyping for patients with reproductive difficulty who may not have all features of classical Klinefelter syndrome.

Chronic myelogenous leukemia (CMl) is a myeloproliferative neoplasm caused by a translocation between the breakpoint cluster region (BCr) and abelson murine leukemia 1 (aBl1) genes. tyrosine kinase inhibitors (tKIs) are used in the treatment of CMl. tKIs, bind the aBl1 kinase domain of hybrid BCr-aBl1 protein and inhibit its function. However, resistance can occur due to the pathogenic variations in the aBl kinase domain or BCr-aBl1-independent mechanisms. In the present study, genetic variations possibly related to imatinib resistance in CMl were explored. a total of five single nucleotide polymorphisms [SNPs; MorN2 rs3099950, PtCra rs9471966, aNKrD35 rs11579366, dynein axonemal heavy chain 9 (DNaH9) rs1990236 and MaGEC1 rs176037] were investigated in imatinib sensitive and in resistant CMl patients. additionally, sequencing of the aBl1 kinase domain was also performed. the frequency of DNaH9 M4374I (NP_001363.2)/M686I (NP_004653.2) (rs1990236) was found to be significantly higher in the imatinib-resistant group. However, the other SNPs did not exhibit any statistically significant differences and no new variant was detected in the aBl1 kinase domain. Considering the frequency difference of the DNaH9 rs1990236 between imatinib-sensitive and imatinib-resistant groups, DNaH9 gene may play a role in tKI resistance. Due to the limited amounts of literature available on this subject, further studies on DNaH9 and related genes may prove to be beneficial for the elucidation of the association between DNaH9 and tKI resistance. Moreover, further larger studies are required to support the current findings. This may aid in the development of novel treatment protocols for patients with CMl with DNaH9 genetic polymorphisms.