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.

A 41-year-old female presented with no family history of TS, normal facial build, normal intelligence, and no other common clinical features of TS. The patient experienced spontaneous puberty, regular menstruation of a normal volume, bilateral fallopian tube blockage, and multiple cervical cysts.

Karyotype analysis showed 45,X/47,XXX/46,XX cells, whereas fluorescence in situ hybridization also revealed the presence of 48,XXX cells.

There is growing evidence that ovarian function declines with age among those with chimeric TS, reducing their chances of conception. Fluorescence in situ hybridization should be recommended among those with difficulties conceiving to detect those with atypical chimeric TS, who may experience ovarian failure at an early age, to enable timely fertility interventions.