Cytogenetic Analysis of a Patient with Turner Syndrome (45,X/47,XXX/48,XXXX/46,XX)

Turner syndrome (TS) is a female genetic disorder. Most patients with TS have a 45,X haplotype, but a small proportion have low nonholic chimerism. We here report a rare case of chimeric Turner syndrome in an individual with no phenotype aside from difficulties in conception, which may have been due to TS-associated decreased ovarian function.